Gamma-Aminobutyric Acid Receptor, Beta-1

Alternative Names

GABRB1
GABA-A Receptor, Beta-1 Polypeptide

Length

432,801 bases

No. of Exons

No. of isoforms

Protein Name

Gamma-aminobutyric acid receptor subunit beta-1

Molecular Mass

54235 Da

Amino Acid Count

474

Genomic Location

chr4:46,993,646-47,426,446

Gene Map Locus

4p12

Description

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000812.3:c.241-53906=	Arab; United Arab Emir...	NC_000004.12:g.47107343=		Association	Type 2 Diabetes Mellitus	NG_051831.1:g.81066=; NM_000812.3:c.241-53906=; NP_000803.2:p.?	1372491
NM_000812.3:c.241-60273C>G	United Arab Emirates	NC_000004.12:g.47100976C>G		Association	Type 2 Diabetes Mellitus	NG_051831.1:g.74699C>G; NM_000812.3:c.241-60273C>G; NP_000803.2:p.?	10517178

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=gabrb1

Contributors

Asha Deepthi: 13.04.2022

Edit History

Pratibha Nair: 08.02.2023
Asha Deepthi: 13.04.2022

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