Glycine Receptor, Beta Subunit

Alternative Names

  • GLRB

Associated Diseases

Hyperekplexia 2
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OMIM Number

138492

NCBI Gene ID

2743

Uniprot ID

P48167

Length

95,941 bases

No. of Exons

13

No. of isoforms

2

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000824.5:c.596T>GSaudi ArabiaNC_000004.12:g.157136872T>GPathogenicPathogenicHyperekplexia 2NG_015823.1:g.65748T>G; NM_000824.5:c.596T>G; NP_000815.1:p.Met199Arg39812285631539
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