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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
General
glycoprotein
ionotropic receptor subunit
transmembrane 4e protein
Properties
SIZE: entity length = 452 aa
MW = 51 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-248}
MOTIF: signal sequence {1-16}
N-glycosylation site {N103}
N-glycosylation site {N106}
cysteine residue {C164}
MODIFICATION: cysteine residue {C178}
cysteine residue {C178}
MODIFICATION: cysteine residue {C164}
transmembrane domain {249-271}
cytoplasmic loop {272-274}
transmembrane domain {275-297}
exoplasmic loop {298-308}
transmembrane domain {309-331}
cytoplasmic loop {332-429}
transmembrane domain {430-452}
exoplasmic domain {452-452}
Database Correlations
OMIM correlations
UniProt O14764
PFAM correlations
Entrez Gene 2563
Kegg hsa:2563
References
UniProt :accession O14764