Bio Background |
This gene encodes the beta subunit of the glycinereceptor, 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 conductancedue to the binding of glycine to the receptor. Mutations in thisgene cause startle disease, also known as hereditary hyperekplexiaor congenital stiff-person syndrome, a disease characterized bymuscular rigidity. Alternative splicing results in multipletranscript variants. |
Bio References |
Joslyn, G., et al. Alcohol. Clin. Exp. Res. 34(5):800-812(2010)Wheeler, H.E., et al. PLoS Genet. 5 (10), E1000685 (2009) :Ziegler, E., et al. Naunyn Schmiedebergs Arch. Pharmacol. 380(4):277-291(2009)Tabakoff, B., et al. BMC Biol. 7, 70 (2009) :Ahrens, J., et al. Pharmacology 83(4):217-222(2009) |