This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Gamma-aminobutyric acid receptor subunit delta.
Human | |
---|---|
Gene Name: | GABRD |
Uniprot: | O14764 |
Entrez: | 2563 |
Belongs to: |
---|
ligand-gated ion channel (TC 1.A.9) family |
EIG10; EJM7; GABA A R delta; GABA(A) receptor subunit delta; GABA-A receptor, delta polypeptide; GABAAR delta; GABAARd; GABRD; gamma-aminobutyric acid (GABA) A receptor, delta; gamma-aminobutyric acid receptor subunit delta; GEFSP5; MGC45284
Mass (kDA):
50.708 kDA
Human | |
---|---|
Location: | 1p36.33 |
Sequence: | 1; NC_000001.11 (2019345..2030758) |
Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
PMID: 15115768 by Dibbens L.M., et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
PMID: 27864847 by Parrini E., et al. Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.