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.
Aliases： HKPX2
Entrez GeneID ： 2743
Swissprot ： P48167
WB Predicted band size： 56.1kDa
Host/Isotype ： Mouse IgG2b
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human GLRB (AA: extra 23-160) expressed in E. Coli.
