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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.
