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GJB2

  • GJB2

    • Protein-coding gene in the species Homo sapiens

    Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene. Gap junctions were first

    GJB2

    GJB2

    GJB2

  • Sensorineural hearing loss

    • Hearing loss caused by an inner ear or vestibulocochlear nerve defect

    impairment in developed countries is DFNB1, also known as Connexin 26 deafness or GJB2-related deafness. The most common syndromic forms of hearing impairment include

    Sensorineural hearing loss

    Sensorineural hearing loss

    Sensorineural_hearing_loss

  • Nagwa Abdel Meguid

    • Egyptian geneticist

    amino acids of the plasma membrane. Meguid described a new mutation for the GJB2 gene ( a gene responsible for recessive non-syndromic deafness) with a deletion

    Nagwa Abdel Meguid

    Nagwa_Abdel_Meguid

  • Bart–Pumphrey syndrome

    • Medical condition

    interphalangeal joints. It was characterized in 1967. It can be associated with GJB2. Camisa disease Bart syndrome Palmoplantar keratoderma Rapini, Ronald P.;

    Bart–Pumphrey syndrome

    Bart–Pumphrey syndrome

    Bart–Pumphrey_syndrome

  • Ichthyosis hystrix

    • Medical condition

    hyperkeratosis. It is an autosomal dominant condition caused by a mutation to the GJB2 gene (the same gene affected by KID syndrome). An extremely rare disease

    Ichthyosis hystrix

    Ichthyosis_hystrix

  • Ichthyosis

    • Family of disorders causing dry, thickened, scaly skin

    Keratitis-ichthyosis-deafness syndrome 602450 148210 Autosomal dominant GJB2 Neutral lipid storage disease with ichthyosis 275630 Autosomal recessive

    Ichthyosis

    Ichthyosis

    Ichthyosis

  • Palmoplantar keratoderma

    • Abnormal thickening of skin in the palms or soles

    sensorineural hearing loss is often associated. It has been associated with GJB2. It was characterized in 1929. Olmsted syndrome (also known as "Mutilating

    Palmoplantar keratoderma

    Palmoplantar keratoderma

    Palmoplantar_keratoderma

  • List of cutaneous conditions caused by mutations in keratins

    • include: Vohwinkel syndrome may be caused by mutations in either loricrin or GJB2. This is an example of locus heterogeneity. List of keratins expressed in

    List of cutaneous conditions caused by mutations in keratins

    List_of_cutaneous_conditions_caused_by_mutations_in_keratins

  • Nonsyndromic deafness

    • Medical condition

    Mutations in the ACTG1, CABP2, CDH23, CLDN14, COCH, COL11A2, DFNA5, ESPN, EYA4, GJB2, GJB6, KCNQ4, MYO15A, MYO6, MYO7A, OTOF, PCDH15, POU3F4, SLC26A4, STRC, TECTA

    Nonsyndromic deafness

    Nonsyndromic_deafness

  • Chromosome 13

    • Human chromosome

    related tyrosine kinase 1 (Vascular endothelial growth factor receptor 1) GJB2: gap junction protein, beta 2, 26kDa (connexin 26) GJB6: gap junction protein

    Chromosome 13

    Chromosome 13

    Chromosome_13

  • CNGB1

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    CNGB1

    CNGB1

    CNGB1

  • Hyperacusis

    • Increased sensitivity to sound and decreased tolerance of noise

    Recently, it has been discovered that individuals with one copy of the GJB2 (Cx26) genetic mutation exhibit hearing that is more sensitive than average

    Hyperacusis

    Hyperacusis

  • GJD2

    • Protein-coding gene in the species Homo sapiens

    junction intercellular channel is formed by the conjunction of 2 connexons. See GJB2 for additional background information on connexins. GRCh38: Ensembl release

    GJD2

    GJD2

    GJD2

  • Calcium channel

    • Ion channel complex through which calcium ions pass

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Calcium channel

    Calcium_channel

  • KCNH2

    • Mammalian protein found in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNH2

    KCNH2

    KCNH2

  • Palmoplantar keratoderma with deafness

    • Medical condition

    This condition is caused by autosomal dominant missense mutations of the GJB2 gene, located in the long arm of chromosome 13. According to OMIM, 4 families

    Palmoplantar keratoderma with deafness

    Palmoplantar_keratoderma_with_deafness

  • Gap junction

    • Cell-cell junction composed of innexins or connexins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Gap junction

    Gap junction

    Gap_junction

  • Medical genetics of Jews

    • Autosomal recessive conditions that affect ethnic Jews more frequently

    Congenital deafness Neurology, otorhinolaryngology, audiology Autosomal recessive GJB2 or GJB6 1/25 Cystic fibrosis Pulmonology, hepatology Autosomal recessive

    Medical genetics of Jews

    Medical_genetics_of_Jews

  • Two-pore-domain potassium channel

    • Class of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Two-pore-domain potassium channel

    Two-pore-domain potassium channel

    Two-pore-domain_potassium_channel

  • Public health genomics

    • Field of study

    linked variants in the gap junction beta 2 (GJB2) gene to nonsyndromic prelingual sensorineural hearing loss. GJB2 is a gene encoding for connexin, a protein

    Public health genomics

    Public_health_genomics

  • TRPM6

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    TRPM6

    TRPM6

    TRPM6

  • Gap junction protein

    • 6, gap junction alpha-12 protein GJB1, Cx32, gap junction beta-1 protein GJB2, Cx26, gap junction beta-2 protein GJB3, Cx31, gap junction beta-3 protein

    Gap junction protein

    Gap_junction_protein

  • He Jiankui affair

    • 2018 scientific and bioethical controversy

    already started in vitro experiment to repair a gene that causes deafness, GJB2, using CRISPR. In 2019, the Abramson Cancer Center of the University of Pennsylvania

    He Jiankui affair

    He Jiankui affair

    He_Jiankui_affair

  • N-type calcium channel

    • Protein family

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    N-type calcium channel

    N-type calcium channel

    N-type_calcium_channel

  • Voltage-dependent anion channel

    • Class of porin ion channels in the outer mitochondrial membrane

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Voltage-dependent anion channel

    Voltage-dependent anion channel

    Voltage-dependent_anion_channel

  • TRPC3

    • Protein and coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    TRPC3

    TRPC3

    TRPC3

  • KCNH3

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNH3

    KCNH3

    KCNH3

  • USP53

    • Protein-coding gene in the species Homo sapiens

    QJ (December 2015). "Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary

    USP53

    USP53

    USP53

  • HCN1

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    HCN1

    HCN1

    HCN1

  • KCNN2

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNN2

    KCNN2

    KCNN2

  • Voltage-gated sodium channel

    • Family of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Voltage-gated sodium channel

    Voltage-gated_sodium_channel

  • KCNJ12

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNJ12

    KCNJ12

    KCNJ12

  • KCNJ15

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNJ15

    KCNJ15

    KCNJ15

  • CLCNKA

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    CLCNKA

    CLCNKA

    CLCNKA

  • KCNK13

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNK13

    KCNK13

    KCNK13

  • GJC3

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    GJC3

    GJC3

    GJC3

  • Porin (protein)

    • Group of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Porin (protein)

    Porin (protein)

    Porin_(protein)

  • SCNN1G

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    SCNN1G

    SCNN1G

    SCNN1G

  • CLIC3

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    CLIC3

    CLIC3

    CLIC3

  • KCNAB1

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNAB1

    KCNAB1

    KCNAB1

  • Pendrin

    • Anion exchange protein

    isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". European Journal of

    Pendrin

    Pendrin

    Pendrin

  • Ligand-gated ion channel

    • Type of ion channel transmembrane protein

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Ligand-gated ion channel

    Ligand-gated ion channel

    Ligand-gated_ion_channel

  • List of OMIM disorder codes

    • microtia, and microdontia; 610706; FGF3 Deafness, digenic GJB2/GJB6; 220290; GJB6 Deafness, digenic, GJB2/GJB3; 220290; GJB3 Deafness, sensorineural, with hypertrophic

    List of OMIM disorder codes

    List_of_OMIM_disorder_codes

  • KCNA6

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNA6

    KCNA6

    KCNA6

  • TRPV1

    • Human protein for regulating body temperature

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    TRPV1

    TRPV1

    TRPV1

  • Aquaporin

    • Water channel protein in cell membranes

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Aquaporin

    Aquaporin

    Aquaporin

  • Sodium channel

    • Transmembrane protein allowing sodium ions in and out

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Sodium channel

    Sodium channel

    Sodium_channel

  • Preimplantation genetic diagnosis

    • Genetic profiling of embryos prior to implantation

    orientation, height, beauty, or intelligence. Some tests, like those for GJB2 mutations linked to hereditary deafness, might lead to requests for PGD to

    Preimplantation genetic diagnosis

    Preimplantation genetic diagnosis

    Preimplantation_genetic_diagnosis

  • Ion channel

    • Pore-forming membrane protein

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Ion channel

    Ion channel

    Ion_channel

  • Gordon Awandare

    • Ghanaian parasitologist

    Geoffrey K.; Awandare, Gordon A.; Wonkam, Ambroise (2020). "Screening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice

    Gordon Awandare

    Gordon Awandare

    Gordon_Awandare

  • Membrane transport protein

    • Membrane protein involved in transportation

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Membrane transport protein

    Membrane_transport_protein

  • Voltage-gated calcium channel

    • Group of voltage-gated ion channels permeable to Ca2+

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Voltage-gated calcium channel

    Voltage-gated_calcium_channel

  • Voltage-gated ion channel

    • Type of ion channel transmembrane protein

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Voltage-gated ion channel

    Voltage-gated ion channel

    Voltage-gated_ion_channel

  • Transient receptor potential channel

    • Class of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Transient receptor potential channel

    Transient_receptor_potential_channel

  • HCN channel

    • Intermembrane proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    HCN channel

    HCN_channel

  • TRPA1

    • Protein and coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    TRPA1

    TRPA1

    TRPA1

  • TRPM8

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    TRPM8

    TRPM8

    TRPM8

  • Potassium channel

    • Ion channel that selectively passes K+

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Potassium channel

    Potassium channel

    Potassium_channel

  • SCN1A

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    SCN1A

    SCN1A

    SCN1A

  • Ryanodine receptor

    • Class of intracellular transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Ryanodine receptor

    Ryanodine receptor

    Ryanodine_receptor

  • Channelome

    • Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Channelome

    Channelome

  • BK channel

    • Family of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    BK channel

    BK channel

    BK_channel

  • ROMK

    • Potassium channel

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    ROMK

    ROMK

    ROMK

  • GJB6

    • Protein-coding gene in the species Homo sapiens

    Abeliovich D (November 2001). "A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in

    GJB6

    GJB6

    GJB6

  • ATP-sensitive potassium channel

    • Family of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    ATP-sensitive potassium channel

    ATP-sensitive_potassium_channel

  • Pacemaker current

    • Electric current in the heart

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Pacemaker current

    Pacemaker_current

  • GJB1

    • Protein-coding gene in humans

    molecules between cells. For a general discussion of connexin proteins, see GJB2. In Schwann cells, GJB1 also forms channels that facilitate transfers between

    GJB1

    GJB1

    GJB1

  • Cystic fibrosis transmembrane conductance regulator

    • Mammalian protein found in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Cystic fibrosis transmembrane conductance regulator

    Cystic fibrosis transmembrane conductance regulator

    Cystic_fibrosis_transmembrane_conductance_regulator

  • Sodium voltage-gated channel alpha subunit 9

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Sodium voltage-gated channel alpha subunit 9

    Sodium voltage-gated channel alpha subunit 9

    Sodium_voltage-gated_channel_alpha_subunit_9

  • L-type calcium channel

    • Family of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    L-type calcium channel

    L-type calcium channel

    L-type_calcium_channel

  • Connexin

    • Group of proteins which form the intermembrane channels of gap junctions

    structure of the gap junction channel formed by human Cx26 (also known as GJB2) at 3.5 Å resolution is available. The density map showed the two membrane-spanning

    Connexin

    Connexin

    Connexin

  • Causes of hearing loss

    • loss in developed countries is DFNB1, also known as connexin 26 deafness or GJB2-related deafness. The most common dominant syndromic forms of hearing loss

    Causes of hearing loss

    Causes_of_hearing_loss

  • List of genes mutated in cutaneous conditions

    • Lymphedema–distichiasis syndrome Meige lymphedema GALNT3 Familial tumoral calcinosis GJB2 Connexin 26 KID syndrome Vohwinkel syndrome Bart–Pumphrey syndrome GJB3 Connexin

    List of genes mutated in cutaneous conditions

    List_of_genes_mutated_in_cutaneous_conditions

  • KCNK5

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNK5

    KCNK5

    KCNK5

  • Inward-rectifier potassium channel

    • Group of transmembrane proteins that passively transport potassium ions

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Inward-rectifier potassium channel

    Inward-rectifier potassium channel

    Inward-rectifier_potassium_channel

  • Nav1.8

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Nav1.8

    Nav1.8

    Nav1.8

  • CLCNKB

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    CLCNKB

    CLCNKB

    CLCNKB

  • KCNK2

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNK2

    KCNK2

    KCNK2

  • G protein-coupled inwardly rectifying potassium channel

    • Family of lipid-gated inward-rectifier potassium ion channels

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    G protein-coupled inwardly rectifying potassium channel

    G_protein-coupled_inwardly_rectifying_potassium_channel

  • CACNA2D1

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    CACNA2D1

    CACNA2D1

    CACNA2D1

  • Epithelial sodium channel

    • Group of membrane proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Epithelial sodium channel

    Epithelial sodium channel

    Epithelial_sodium_channel

  • Membrane channel

    • Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Membrane channel

    Membrane_channel

  • CACNA1C

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    CACNA1C

    CACNA1C

    CACNA1C

  • SCN5A

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    SCN5A

    SCN5A

    SCN5A

  • ASIC5

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    ASIC5

    ASIC5

  • CDH23

    • Protein-coding gene in humans

    "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10

    CDH23

    CDH23

    CDH23

  • Aquaporin-4

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Aquaporin-4

    Aquaporin-4

    Aquaporin-4

  • VDAC1

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    VDAC1

    VDAC1

    VDAC1

  • SCN2A

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    SCN2A

    SCN2A

    SCN2A

  • Bestrophin 1

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Bestrophin 1

    Bestrophin 1

    Bestrophin_1

  • Polycystin 1

    • Family of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Polycystin 1

    Polycystin 1

    Polycystin_1

  • Inositol trisphosphate receptor

    • Class of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Inositol trisphosphate receptor

    Inositol trisphosphate receptor

    Inositol_trisphosphate_receptor

  • Voltage-gated potassium channel

    • Class of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Voltage-gated potassium channel

    Voltage-gated potassium channel

    Voltage-gated_potassium_channel

  • Chloride channel

    • Class of transport proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Chloride channel

    Chloride channel

    Chloride_channel

  • Shapiro–Senapathy algorithm

    • Paoli, Bibiana; Elgoyhen, Ana Belén; Dalamón, Viviana (21 October 2020). "GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired

    Shapiro–Senapathy algorithm

    Shapiro–Senapathy algorithm

    Shapiro–Senapathy_algorithm

  • TRPV

    • Subgroup of TRP cation channels named after the vanilloid receptor

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    TRPV

    TRPV

    TRPV

  • KCNQ1

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    KCNQ1

    KCNQ1

    KCNQ1

  • GJA1

    • Protein-coding gene in humans

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    GJA1

    GJA1

    GJA1

  • Mechanosensitive channels

    • Type of membrane proteins

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Mechanosensitive channels

    Mechanosensitive_channels

  • Aquaporin-3

    • Protein-coding gene in the species Homo sapiens

    Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin By gating

    Aquaporin-3

    Aquaporin-3

    Aquaporin-3

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Online names & meanings

  • Suraiya |

    • Girl/Female

    Muslim

    Suraiya |

    Beautiful

  • Ushasri

    • Girl/Female

    Indian, Telugu

    Ushasri

    Goddess of Dawn

  • Jecamiah

    • Biblical

    Jecamiah

    resurrection, or confirmation, or revenge, of the Lord,whom Jehovah gathers

  • Debopriya

    • Girl/Female

    Indian

    Debopriya

    Gods favorite

  • AVGUSTIN

    • Male

    Russian

    AVGUSTIN

    (Августи́н) Russian form of Roman Latin Augustinus, AVGUSTIN means "venerable."

  • Lakshmika

    • Girl/Female

    Hindu, Indian, Kannada, Tamil, Telugu, Traditional

    Lakshmika

    Goddess Laxmi

  • Edwardene

    • Girl/Female

    British, English

    Edwardene

    Wealthy Defender

  • Aroush

    • Girl/Female

    Muslim/Islamic

    Aroush

    Angel of paradise

  • Spence

    • Boy/Male

    English

    Spence

    Dispenser; provider.

  • Bhag

    • Boy/Male

    Hindu, Indian

    Bhag

    Luck

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