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Gene : GABRA1 Homo sapiens

Name  ? gamma-aminobutyric acid type A receptor subunit alpha1 Cytological Location  5q34
Brief Description  gamma-aminobutyric acid type A receptor subunit alpha1
Description  This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • NM_000806.5,
  • GABA(A) receptor, alpha 1,
  • EJM,
  • OTTHUMG00000163586,
  • EJM5,
  • ECA4,
  • GABRA1,
  • EIEE19,
  • uc010jix.5,
  • gamma-aminobutyric acid (GABA) A receptor, alpha 1,
  • EJM5,
  • HGNC:4075
  • identifiers:
  • 2554,
  • ENSG00000022355,
  • GABRA1

Genome feature

Region: gene ? Length: 52781  
Location: 5:161847191-161899971 Cyto location: 5q34


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SNPs

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Disease

2 Diseases

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39 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results