GLRB Antibody – Rabbit Polyclonal

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]

GLRB: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing). Defects in GLRB are the cause of hyperekplexia type 2 (HKPX2). HKPX2 is a neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile2 stimuli. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub- subfamily.

Protein type: Transporter, ion channel; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Channel, ligand-gated

Chromosomal Location of Human Ortholog: 4q31.3

Cellular Component: postsynaptic membrane; integral to plasma membrane; plasma membrane; cell junction

Molecular Function: protein binding; extracellular-glycine-gated chloride channel activity; extracellular-glycine-gated ion channel activity; glycine binding; drug binding

Biological Process: nervous system development; startle response; synaptic transmission, glycinergic; righting reflex; protein heterooligomerization; acrosome reaction; adult walking behavior; synaptic transmission; regulation of membrane potential; visual perception; neuropeptide signaling pathway; ion transport; transmembrane transport

Disease: Hyperekplexia 2