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GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit

Also known as: EJM; ECA4; EJM5; EIEE19

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Epilepsy, juvenile myoclonic 5
MedGen: C2749942OMIM: 611136GeneReviews: Not available
See labs
Epileptic encephalopathy, early infantile, 19
MedGen: C3810400OMIM: 615744GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-08-09)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2017-08-09)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
5q34
Sequence:
Chromosome: 5; NC_000005.10 (161847191..161899959)
Total number of exons:
13

Links

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