gamma-aminobutyric acid receptor subunit delta; GABA(A) receptor subunit delta (GABRD)

Function

• GABA-A receptor subunit

Structure

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

Compartment

• cell junction, synapse, postsynaptic cell membrane

Pathology

• defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5

More general terms

• transmembrane 4e protein
• glycoprotein
• ionotropic receptor subunit

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2563
• OMIM: https://mirror.omim.org/entry/137163
• OMIM: https://mirror.omim.org/entry/604233
• UniProt: http://www.uniprot.org/uniprot/O14764.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2563