Disease relevance of GLRB

• Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies [1].

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

• Fluorescence in situ hybridisation was used to localise the gene encoding the human GlyR beta subunit (GLRB) to chromosome 4q32, a position syntenic with mouse chromosome 3 [5].

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

• By in situ hybridization, the chromosomal localization of GLRB was refined to band 4q31 [4].

References