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Protein-coding gene in the species Homo sapiens
acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene. It is located within the 15q12 region in the human genome and spans
GABRB3
Genetic disorder
likely involved in the etiology of Dup15q syndrome include UBE3A, GABRA5, GABRB3, and GABRG3. UBE3A is a ubiquitin-protein ligase that is involved in targeting
Dup15q
Ionotropic receptor and ligand-gated ion channel
(GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6) three βs (GABRB1, GABRB2, GABRB3) three γs (GABRG1, GABRG2, GABRG3) as well as a δ (GABRD), an ε (GABRE)
GABAA_receptor
Genetic disorder caused by a mutation of chromosome 15
be an electrophysiological readout of genes beyond UBE3A such as GABRA5, GABRB3, and GABRG3. The paternal copy of UBE3A is silenced within the hippocampus
Angelman_syndrome
Honduran neurologist
has co-discovered several genes related to epilepsy, including EFHC1 and GABRB3. He became the regional director for Latin America of the World Federation
Marco_Tulio_Medina
Medical condition
Linkage disequilibrium between an AD-associated GABA receptor gene cluster, GABRB3/GABRG3, and eye color genes, OCA2/HERC2, as well as between AD-associated
Alcohol_dependence
Protein found in humans
Glatt K, Glatt H, Lalande M (April 1997). "Structure and organization of GABRB3 and GABRA5". Genomics. 41 (1): 63–69. doi:10.1006/geno.1997.4639. PMID 9126483
GABRA5
Set of disorders affecting development of nervous system
neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3". Human Molecular Genetics. 14 (4): 483–492. doi:10.1093/hmg/ddi045. PMC 1224722
Neurodevelopmental_disorder
Neural oscillation in the brain, 12.5–30 Hz
(Dup15q) who have duplications of GABAA receptor subunit genes GABRA5, GABRB3, and GABRG3. Similarly, children with Angelman syndrome with deletions of
Beta_wave
Type of ion channel transmembrane protein
GABRA2 GABRA3 GABRA4 GABRA5 GABRA6 EJM, ECA4 beta β1 β2 β3 GABRB1 GABRB2 GABRB3 ECA5 gamma γ1 γ2 γ3 GABRG1 GABRG2 GABRG3 CAE2, ECA2, GEFSP3 delta δ GABRD
Ligand-gated_ion_channel
Type of generalized seizure
activity) and CACNA1I (CaV3.3) GABAA receptors: GABRG2 (faster deactivation), GABRB3 (impaired migration to cell surface) Nicotinic acetylcholine receptor: CHRNA4
Absence_seizure
DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD (March 2008). "Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits
Heritability_of_autism
Complex interplay of factors
neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3". Human Molecular Genetics. 14 (4): 483–492. doi:10.1093/hmg/ddi045. PMC 1224722
Causes_of_autism
Rare form of childhood-onset epilepsy
syndrome have de novo mutations in a variety of genes, including CHD2, GABRB3, ALG13 and SCN2A. The Epi4K study consortium (2013) observed de novo mutations
Lennox–Gastaut_syndrome
Field of study
receptor family, especially GABRB3, are attractive candidate genes for Autism because of their function in the nervous system. GABRB3 null mice exhibit behaviors
Epigenetics_of_autism
Q16445 5977 GABRB1 HGNC:4081; P18505 5978 GABRB2 HGNC:4082; P47870 5979 GABRB3 HGNC:4083; P28472 5980 GABRD HGNC:4084; O14764 5981 GABRE HGNC:4085; P78334
List of human protein-coding genes 3
List_of_human_protein-coding_genes_3
Condition caused by two joined and mirrored duplications of part of chromosome 15
is driven by overexpression of duplicated GABAA receptor genes GABRA5, GABRB3, and GABRG3 found on 15q11.2-q13.1. Treatment monitoring and identification
Isodicentric_15
American neuroscientist
disordered behavioral phenotypes. She deleted ASD-related genes (MeCP2 and Gabrb3) in peripheral neurons and found that absence of these genes, in peripheral
Lauren_Orefice
Protein-coding gene in the species Homo sapiens
dephosphorylation of NFAT. AKAP5 has been shown to interact with: Calcineurin and GABRB3. GRCh38: Ensembl release 89: ENSG00000179841 – Ensembl, May 2017 GRCm38:
AKAP5
Index of articles on biophysics
subunits GABAA receptor GABRA2 GABRA3 GABRA4 GABRA5 GABRA6 GABRB1 GABRB2 GABRB3 GABRD GABRE GABRG1 GABRG2 GABRG3 GABRP GABRQ GABRR1 GABRR2 GABRR3 GHK flux
Index_of_biophysics_articles
Abnormal partial or mixed chromosome
manifestations. Certain duplicated genes in the PWS/ACR viz., NDN, SNRPN, UBE3A, and GABRB3, are suspected of contributing to one or more of the disorders in this syndrome
Small supernumerary marker chromosome
Small_supernumerary_marker_chromosome
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