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Protein-coding gene in the species Homo sapiens
Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains tetratricopeptide repeats (TPR)
BBS4
Protein complex involved in cilium biogenesis
proteins within the largest and most stable BBSome core complex are BBS1, BBS4, BBS5, BBS8, BBS9, and BBS-interacting protein BBIP1, also known as BBS18
BBSome
Ciliopathic recessive genetic disorder
been identified. Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B, CEP290, TMEM67
Bardet–Biedl_syndrome
Ontology, the following human proteins are associated with the PCM [1]: BBS4, Bardet-Biedl syndrome 4 protein Lck, Proto-oncogene tyrosine-protein kinase
Pericentriolar_material
Species of spider
identifiers Agyneta silvae Wikidata: Q18612379 Wikispecies: Agyneta silvae CoL: BBS4 GBIF: 7545958 iNaturalist: 752480 Open Tree of Life: 6168661 WSC: urn:lsid:nmbe
Agyneta_silvae
Abnormal closure or absence of the vagina
gene mutations that occur in BBS are listed below: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12
Vaginal_atresia
Protein-coding gene in the species Homo sapiens
disrupted-in-schizophrenia 1 (DISC1) and Bardet-Biedl syndrome 4 protein (BBS4), which provides a link between aberrant PCM1 and the abnormal cortical development
PCM1
Protein-coding gene in the species Homo sapiens
humans is encoded by the TTC8 gene. TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is involved in centriolar replication
TTC8
Protein-coding gene in the species Homo sapiens
for limb-girdle muscular dystrophy. DCTN1 has been shown to interact with: BBS4, Dystonin, Grb2, and RAB6A. GRCh38: Ensembl release 89: ENSG00000204843 –
DCTN1
Genetic disease resulting in abnormal formation or function of cilia
IFT139, IFT140, IFT144, WDR35 Bardet–Biedl syndrome 209900 ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, MKS1, MKS3, SDCCAG8, TTC8, TRIM32
Ciliopathy
Protein-coding gene in the species Homo sapiens
Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule
MAFB_(gene)
HGNC:964; O75936 1445 BBS1 HGNC:966; Q8NFJ9 1446 BBS2 HGNC:967; Q9BXC9 1447 BBS4 HGNC:969; Q96RK4 1448 BBS5 HGNC:970; Q8N3I7 1449 BBS7 HGNC:18758; Q8IWZ6
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Protein-coding gene in the species Homo sapiens
calmodulin 1 (CALM1) proteins. Kamiya et al. have shown that PCM1, DISC1 and BBS4 can all disrupt neuronal organisation in the mouse when their expression
DISC1
Protein tandem repeat
Human genes encoding proteins containing this motif include: AAG2, ANAPC7 BBS4 CABIN1, CDC16, CDC23, CDC27, CNOT10, CTR9 DNAJC3, DNAJC7, DYX1C1 FAM10A4
Tetratricopeptide_repeat
BBS2 Bardet–Biedl syndrome 3; 209900; ARL6 Bardet–Biedl syndrome 4; 209900; BBS4 Bardet–Biedl syndrome 5; 209900; BBS5 Bardet–Biedl syndrome 6; 209900; MKKS
List_of_OMIM_disorder_codes
BBS4
BBS4
BBS4
BBS4
Boy/Male
Arthurian Legend
King Arthur's sword.
Boy/Male
Christian & English(British/American/Australian)
Endurance
Girl/Female
Irish
A name thought to have Norman roots that means “wished-for†or “longed-for child.â€
Girl/Female
British, English
Bright Fame
Girl/Female
Muslim
Girl/Female
Indian, Telugu
Beauty
Girl/Female
British, English
Rich Benefactress
Boy/Male
Australian, British, Celtic, English, Irish
God Spear; Gentle Friend
Boy/Male
Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Telugu
One who Holds Water; Cloud
Male
English
Contracted form of English Abishalom, ABSALOM means "father of peace." In the bible, this is the name of a son of king David.Â
BBS4
BBS4
BBS4
BBS4
BBS4