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GLRA1

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For Research Use Only. Not For Clinical Use.


Background

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.
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Transporters

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Bipolar cells, Inhibitory neurons, Excitatory neurons, Horizontal cells, Oligodendrocyte precursor cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Not detected

Interaction

Homopentamer (in vitro) (PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25730860). Interacts with GLRB to form heteropentameric channels; this is probably the predominant form in vivo (PubMed:22715885, PubMed:22973015, PubMed:25445488). Heteropentamer composed of two GLRA1 and three GLRB (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB (PubMed:22973015). Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed:14551753, PubMed:22715885, PubMed:22973015, PubMed:25445488, PubMed:23994010, PubMed:25730860).

Molecular function

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

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