GABRB3

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Gamma-aminobutyric acid (GABA) A receptor, beta 3
Identifiers
Symbols GABRB3 ; ECA5
External IDs OMIM137192 MGI95621 HomoloGene633 IUPHAR: β3 ChEMBL: 1847 GeneCards: GABRB3 Gene
RNA expression pattern
PBB GE GABRB3 205850 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2562 14402
Ensembl ENSG00000166206 ENSMUSG00000033676
UniProt P28472 P63080
RefSeq (mRNA) NM_000814 NM_001038701
RefSeq (protein) NP_000805 NP_001033790
Location (UCSC) Chr 15:
26.79 – 27.18 Mb
Chr 7:
57.59 – 57.83 Mb
PubMed search [1] [2]

Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene.

Function[edit]

This gene encodes a member of the ligand-gated ion channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described.[1]

Structure[edit]

The crystal structure of a human β3 homopentamer was published in 2014.[2][3]

Clinical significance[edit]

Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. The GABRB3 gene has been associated with savant skills accompanying such disorders.[4] The GABRB3 gene deficient mouse has been proposed as a model of autism spectrum disorder.[5]

Interactions[edit]

GABRB3 has been shown to interact with AKAP5.[6]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3". 
  2. ^ PMID 24909990
  3. ^ http://www.rcsb.org/pdb/explore/explore.do?structureId=4COF pdb
  4. ^ Nurmi EL, Dowd M, Tadevosyan-Leyfer O, Haines JL, Folstein SE, Sutcliffe JS (July 2003). "Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13". J Am Acad Child Adolesc Psychiatry 42 (7): 856–63. doi:10.1097/01.CHI.0000046868.56865.0F. PMID 12819446. 
  5. ^ DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD (March 2008). "Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder". Behav. Brain Res. 187 (2): 207–20. doi:10.1016/j.bbr.2007.09.009. PMC 2684890. PMID 17983671. 
  6. ^ Brandon NJ, Jovanovic JN, Colledge M, Kittler JT, Brandon JM, Scott JD, Moss SJ (January 2003). "A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits". Mol. Cell. Neurosci. 22 (1): 87–97. doi:10.1016/S1044-7431(02)00017-9. PMID 12595241. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.