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Human GLRA1 Stable Cell Line-HEK293

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Cat.No.
CSC-RI0010
Background
Inhibitory neurotransmission in the mammalian CNS is mainly mediated by the amino acids GABA and glycine. GABA receptors constitute major targets of widely used drugs such as barbiturates and benzodiazepines, whereas clinically applicable compounds that target GlyRs have yet to be identified. Glycine levels are highest in the brainstem and spinal cord where GlyRs are involved with the control of motor rhythm generation, the coordination of spinal responses and the processing of sensory signals. A disruption GlyR surface expression, or by reducing the ability of expressed GlyRs to conduct chloride ions, results in the rare neurological disorder, hyperekplexia. The disorder is characterized by an exaggerated response to unexpected stimuli which is followed by a temporary but complete muscular rigidity often resulting in an unprotected fall. Chronic injuries as a result of the falls are symptomatic of the disorder. A mutation in GLRA1 is responsible for some cases of stiff person syndrome.
Growth Properties
Adherent
Morphology
Epithelial
Host Cell
HEK293
Ship
Dry ice
Gene Information
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
MIM
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;

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