GLRA3

Chr 4

glycine receptor alpha 3

NCBI Gene: 8001 ENSG00000145451 UniProt: O75311 OMIM: 600421

The protein functions as a ligand-gated chloride channel that responds to extracellular glycine and plays an important role in down-regulating neuronal excitability and generating inhibitory postsynaptic currents. Mutations cause autosomal recessive hyperekplexia, a neurological disorder characterized by exaggerated startle responses and muscle stiffness. The gene shows low constraint to loss-of-function variants (pLI ~0), suggesting that biallelic variants are required for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.70

LOEUF

Multiple*

Mechanism· predicted