GRM5 Chromosome 11

Glutamate metabotropic receptor 5
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
11q14.2-q14.3
Ensembl
ENSG00000168959
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1941663554 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS201851359 Health Risk Conflicting classifications of pathogenicity
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