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GLRB  -  glycine receptor, beta

Homo sapiens

Synonyms: Glycine receptor 58 kDa subunit, Glycine receptor subunit beta
 
 
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Disease relevance of GLRB

 

High impact information on GLRB

  • Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB) [2].
  • Exon trap analysis revealed that IVS5+5G-->A results in the exclusion of exon 5 from GLRB transcripts [2].
  • This neuromotor disorder is associated with mutations in the GlyR alpha1 and beta subunit genes (GLRA1 and GLRB) [3].
  • Therefore, flanking intronic sequences were determined, and DNA samples from more than 30 index patients were subjected to SSCP screening of the entire GLRB coding region [4].
  • No pathogenic mutation was found, but two intronic polymorphisms were detected in the GLRB gene, and four intronic, three exonic, and one 3'-UTR polymorphisms were identified for the GLRA3 gene [1].
 

Biological context of GLRB

 

Associations of GLRB with chemical compounds

  • The disease has been associated with mutations in the glycine receptor subunit genes GLRA1 and GLRB [6].
 

Analytical, diagnostic and therapeutic context of GLRB

References

  1. Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies. Sobetzko, D., Sander, T., Becker, C.M. Am. J. Med. Genet. (2001) [Pubmed]
  2. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Rees, M.I., Lewis, T.M., Kwok, J.B., Mortier, G.R., Govaert, P., Snell, R.G., Schofield, P.R., Owen, M.J. Hum. Mol. Genet. (2002) [Pubmed]
  3. Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. Rees, M.I., Harvey, K., Ward, H., White, J.H., Evans, L., Duguid, I.C., Hsu, C.C., Coleman, S.L., Miller, J., Baer, K., Waldvogel, H.J., Gibbon, F., Smart, T.G., Owen, M.J., Harvey, R.J., Snell, R.G. J. Biol. Chem. (2003) [Pubmed]
  4. The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. Milani, N., Mülhardt, C., Weber, R.G., Lichter, P., Kioschis, P., Poustka, A., Becker, C.M. Genomics (1998) [Pubmed]
  5. The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Handford, C.A., Lynch, J.W., Baker, E., Webb, G.C., Ford, J.H., Sutherland, G.R., Schofield, P.R. Brain Res. Mol. Brain Res. (1996) [Pubmed]
  6. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Eulenburg, V., Becker, K., Gomeza, J., Schmitt, B., Becker, C.M., Betz, H. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
 
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