Glycine Receptor, Beta Subunit

Alternative Names

GLRB

Length

95,941 bases

No. of Exons

No. of isoforms

Protein Name

Glycine receptor subunit beta

Molecular Mass

56122 Da

Amino Acid Count

497

Genomic Location

chr4:157,076,150-157,172,090

Gene Map Locus

4q32.1

Description

The GLRB gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. This receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Defects in this gene cause hereditary hyperekplexia, a disease characterized by muscular rigidity.

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000824.5:c.596T>G	Saudi Arabia	NC_000004.12:g.157136872T>G	Pathogenic	Pathogenic	Hyperekplexia 2	NG_015823.1:g.65748T>G; NM_000824.5:c.596T>G; NP_000815.1:p.Met199Arg	398122856	31539

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRB https://ghr.nlm.nih.gov/gene/GLRB

Contributors

Alya Qari: 22.06.2016

Edit History

Asha Deepthi: 23.09.2022
Pratibha Nair: 07.12.2014

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