Sequence of this protein is as follows: IWKPDLFFAN EKGAHFHEIT TDNKLLRISR NGNVLYSIRI TLTLACPMDL KNFPMDVQTC IMQLESFGYT MNDLIFEWQE QGAVQVADGL TLPQFILKEE
GLRA1 is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in GLRA1 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 for GLRA1. Glycine receptors (GlyR) that include GLRA1 are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of glycine. GLRA1 are widely distributed throughout the CNS, particularly within the hippocampus, spinal cord and brain stem. Diseases associated with GLRA1 include Hyperekplexia, Hereditary 1 and Hyperekplexia.
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Protein Aliases: GLRA; Glra2; glycine receptor; Glycine receptor 48 kDa subunit; Glycine receptor strychnine-binding subunit; Glycine receptor subunit alpha-1; gra1
Gene Aliases: GLRA1; HKPX1; STHE
UniProt ID: (Human) P23415
Entrez Gene ID: (Human) 2741
Molecular Function: ligand-gated ion channel