GLRA1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which 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. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]

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

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: cell soma; integral to plasma membrane; intracellular membrane-bound organelle; neuron projection; plasma membrane; synapse

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

Biological Process: chloride transport; ion transport; muscle contraction; negative regulation of transmission of nerve impulse; neuropeptide signaling pathway; regulation of inhibitory postsynaptic membrane potential; regulation of membrane potential; startle response; synaptic transmission, glycinergic

Disease: Hyperekplexia, Hereditary 1