Gamma-Aminobutyric Acid Receptor, Gamma-1

Alternative Names

  • GABRG1
  • GABA-A Receptor, Gamma-1 Polypeptide
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OMIM Number

137166

NCBI Gene ID

2565

Uniprot ID

Q8N1C3

Length

88,286 bases

No. of Exons

10

Protein Name

Gamma-aminobutyric acid receptor subunit gamma-1

Molecular Mass

53595 Da

Amino Acid Count

465

Genomic Location

chr4:46,035,768-46,124,053

Gene Map Locus
4p12

Description

The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_173536.3:c.253+3487C>TArab; United Arab Emir...NC_000004.12:g.46093714G>ANM_173536.3:c.253+3487C>T; NP_775807.2:p.?1353642
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