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FLASH GENE

Symbol

GABRA6

contributors: - updated : 07-06-2006

HGNC name	gamma-aminobutyric acid (GABA) A receptor, alpha 6
HGNC id	4080

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q33.1-q33.2      Physical location : 161.112.657 - 161.129.598
Synonym symbol(s)	GAA6

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	16.00 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see GABRA1

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 Endocrine adrenal gland         Nervous brain         Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Respiratory granule cell

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 (4TM), one of which forming the wall of the channel
	a large intracellular loop

HOMOLOGY

Homologene

FAMILY

ligand-gated ionic channel family

CATEGORY

signaling neurotransmitter , receptor , transport channel

SUBCELLULAR LOCALIZATION

plasma 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

neurotransmission

a component

component of a pentameric receptor mediating inhibitory neurotransmission

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to mood disorders to schizophrenia

Variant & Polymorphism SNP	increasing the risk of schizophrenia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS