GLRA1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GLRA1: 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 GLRA1 are the cause of hyperekplexia, hereditary, type 1 (HKPX1). 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 tactile stimuli. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub- subfamily. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: postsynaptic membrane; intracellular membrane-bound organelle; integral to plasma membrane; integral to membrane; plasma membrane; cell junction; external side of plasma membrane

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

Biological Process: regulation of action potential; startle response; synaptic transmission, glycinergic; righting reflex; acrosome reaction; neurological control of breathing; chloride transport; adult walking behavior; neuromuscular process controlling posture; regulation of inhibitory postsynaptic membrane potential; regulation of membrane potential; muscle contraction; visual perception; negative regulation of transmission of nerve impulse; neuropeptide signaling pathway; ion transport; transmembrane transport

Disease: Hyperekplexia, Hereditary 1