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GABRB3 (NM_001191321) - gamma-aminobutyric acid type A receptor subunit beta3

Gamma-Aminobutyric Acid Receptor Subunit Beta-3 Isoform 4

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of GABRB3 protein. View all 5 isoforms
GABRB3: gamma-aminobutyric acid receptor subunit beta-3 isoform 4
Description:

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].

Strand
-
Chromosome
15
Protein
402 residues
All mutations
164
PTM sites
8
CDS
26,792,939 - 26,874,150
Transcription
26,788,693 - 26,874,325
24.13% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2562
UniProt
Ensembl