gamma-aminobutyric acid receptor subunit gamma-2; GABA(A) receptor subunit gamma-2 (GABRG2)

Function

• GABA-A receptor gamma subunit
• this subunit carries the benzodiazepine binding site
• palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering &/or cell surface stability (putative)

Structure

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

Compartment

• cell junction, synapse, postsynaptic cell membrane

Pathology

• defects in GABRG2 are the cause of:
  • childhood absence epilepsy type 2
  • familial febrile convulsions type 8
  • generalized epilepsy with febrile seizures plus type 3
  • severe myoclonic epilepsy in infancy

More general terms

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

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2566
• OMIM: https://mirror.omim.org/entry/137164
• OMIM: https://mirror.omim.org/entry/604233
• OMIM: https://mirror.omim.org/entry/607208
• OMIM: https://mirror.omim.org/entry/607681
• OMIM: https://mirror.omim.org/entry/611277
• UniProt: http://www.uniprot.org/uniprot/P18507.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2566