Aliases: GPRC1A, MGLU1, MGLUR1, SCAR13
Chromosome No: 6
Chromosome Band: 6q24.3
Genetic Category: Rare single gene variant-Genetic association
ASD Reports: 9
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
A missense/3'UTR variant in the GRM1 gene (rs6923492) associated with ASD in a discovery cohort of 446 German ASD families; however, this association failed to replicate in a combined meta-analysis using a subsample of the Autism Genome Project and a French case/control cohort in addition to the original German discovery cohort (Waltes et al., 2014).
Molecular Function
G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum. Defects in this gene are associated with spinocerebellar ataxia, autosomal recessive, 13 (SCAR13) [MIM:614831], and variants in this gene are associated with schizophrenia, bipolar disorder, and depression.
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