NCBI Description of GLRB
|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.|
Community Annotation of GLRB Add / Edit GLRB: Annotations
No community annotations yet for GLRB.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.