GLRB, Official Symbol GLRBprovided by HGNC Official Full Name glycine receptor betaprovided by HGNC Primary source HGNC:HGNC:4329 See related Ensembl:ENSG00000109738 MIM:138492; AllianceGenome:HGNC:4329 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HKPX2 Summary This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Biased expression in brain (RPKM 13.2), salivary gland (RPKM 2.5) and 10 other tissues See more Orthologs mouse all