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FLASH GENE

Symbol

GABRD

contributors: - updated : 09-12-2005

HGNC name	gamma-aminobutyric acid (GABA) A receptor, delta
HGNC id	4084

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	5.00 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain medulla oblongata       brain diencephalon hypothalamus     Reproductive female system breast

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a ligand binding site in the N terminal region
	four transmembrane segments,one of which forming the wall of the channel and a large intracellular loop

HOMOLOGY

Homologene

FAMILY

ligand-gated ionic channel family

CATEGORY

receptor membrane ligand ion channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	localizing to extra and perisynaptic membrane

basic FUNCTION

mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a pentameric receptor mediating inhibitory neurotransmission

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL1P36 , GEFSP5

Susceptibility

to generalized epilepsy

Variant & Polymorphism other	Glu177Ala and Arg220His contributing to generalized epilepsy with febrile seizures or not

Candidate gene	for neuropsychiatric and neurodevelopmental abnormalities in del1p36 syndrome
Marker
Therapy target

ANIMAL & CELL MODELS