靶标:
GLRB
产品别名:
HKPX2; GLRB; glycine receptor beta; glycine receptor beta; glycine receptor subunit beta; glycine receptor 58 kDa subunit; glycine receptor, beta subunit; 甘氨酸受体β/GlyRβ;
背景信息:
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],