GABRB3 (NM_001191320) - gamma-aminobutyric acid type A receptor subunit beta3
Gamma-Aminobutyric Acid Receptor Subunit Beta-3 Isoform 3
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Protein
Kinases
Sites
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Protein summary
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
- 388 residues
- All mutations
- 164
- PTM sites
- 8
- CDS
- 26,792,939 - 26,866,666
- Transcription
- 26,788,693 - 26,961,912
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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External references
- Entrez
- gene: 2562
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UniProt