GABRA5 gene

gamma-aminobutyric acid type A receptor subunit alpha5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]

From UniProt:

Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671).

Covered on Genetics Home Reference:

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79

From UniProt:

Epileptic encephalopathy, early infantile, 79 (EIEE79): A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum. [MIM:618559]

Cytogenetic Location: 15q12, which is the long (q) arm of chromosome 15 at position 12

Molecular Location: base pairs 26,867,062 to 26,949,210 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q12, which is the long (q) arm of chromosome 15 at position 12
  • EIEE79