gamma-aminobutyric acid receptor subunit alpha-1; GABA(A) receptor subunit alpha-1 (GABRA1)

Function

• GABA-A receptor alpha subunit
• binds UBQLN1 (putative)

Structure

• belongs to the ligand-gated ionic channel (TC 1.A.9) family

Compartment

• cell junction, synapse, postsynaptic cell membrane

Pathology

• defects in GABRA1 are a cause of
  • juvenile myoclonic epilepsy
  • childhood absence epilepsy type 4

More general terms

• transmembrane 4e protein
• glycoprotein
• gamma-aminobutyric acid (GABA) A receptor, alpha

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2554
• OMIM: https://mirror.omim.org/entry/137160
• OMIM: https://mirror.omim.org/entry/606904
• OMIM: https://mirror.omim.org/entry/611136
• UniProt: http://www.uniprot.org/uniprot/P14867.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2554