Recombinant Human GLRA1 cell lysate

• Cat.No.: GLRA1-712HCL

Specification

• Description: 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. Two transcript variants encoding different isoforms have been found for this gene
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot
• Tag: Non

Gene Information

• Gene Name: GLRA1 glycine receptor, alpha 1 [ Homo sapiens ]
• Official Symbol: GLRA1
• Synonyms: GLRA1; glycine receptor, alpha 1; glycine receptor, alpha 1 (startle disease/hyperekplexia) , STHE; glycine receptor subunit alpha-1; startle disease/hyperekplexia; stiff person syndrome; glycine receptor 48 kDa subunit; glycine receptor strychnine-binding subunit; STHE; MGC138878; MGC138879
• Gene ID: 2741
• mRNA Refseq: NM_000171
• Protein Refseq: NP_000162
• MIM: 138491
• UniProt ID: P23415
• Chromosome Location: 5q33.1
• Pathway: Ion channel transport, organism-specific biosystem; Ligand-gated ion channel transport, organism-specific biosystem; Neuroactive ligand-receptor interaction, organism-specific biosystem; Neuroactive ligand-receptor interaction, conserved biosystem; Transmembrane transport of small molecules, organism-specific biosystem
• Function: extracellular ligand-gated ion channel activity; extracellular-glycine-gated chloride channel activity; contributes_to extracellular-glycine-gated chloride channel activity; extracellular-glycine-gated chloride channel activity; glycine binding; glycine binding; ion channel activity; protein binding; receptor activity; taurine binding; transmitter-gated ion channel activity