GABRB3

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

Description

Gamma-aminobutyric acid type A receptor subunit beta3

Tissue specificity

Tissue enhanced (brain, retina)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

15 (26543546 - 26939539)

Ensembl ID

ENSG00000166206  (ver. 103.38)

Orthologs

Mouse Gabrb3: ENSMUSG00000033676

UniProt

P28472

neXtProt

NX_P28472

Human splice variants
Mouse splice variants

Protein structure