GRM1

Chr 6

glutamate metabotropic receptor 1

Also known as: GPRC1A, MGLU1, MGLUR1, PPP1R85, SCA44, SCAR13

NCBI Gene: 2911 ENSG00000152822 UniProt: Q13255

This protein is a G-protein coupled receptor for glutamate that activates phospholipase C and a phosphatidylinositol-calcium second messenger system, participating in synaptic plasticity including long-term potentiation in the hippocampus and long-term depression in the cerebellum. Mutations cause spinocerebellar ataxia 44 (autosomal dominant) and spinocerebellar ataxia, autosomal recessive 13, with pathogenicity predicted to result from gain-of-function mechanisms.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 13

UniProtSpinocerebellar ataxia 44

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — GRM1