Gamma-Aminobutyric Acid Receptor, Alpha-4

Alternative Names

  • GABRA4
  • GABA-A Receptor, Alpha-4 Polypeptide
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OMIM Number

137141

NCBI Gene ID

2557

Uniprot ID

P48169

Length

74,682 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Gamma-aminobutyric acid receptor subunit alpha-4

Molecular Mass

61623 Da

Amino Acid Count

554

Genomic Location

chr4:46,918,899-46,993,580

Gene Map Locus
4p12

Description

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000809.4:c.875-804A>GArab; United Arab Emir...NC_000004.12:g.46966033T>CAssociationType 2 Diabetes MellitusNG_011809.1:g.32531A>G; NM_000809.4:c.875-804A>G; NP_000800.2:p.?2055942
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