Gene: GRM1

Alternate names for this Gene: GPRC1A|MGLU1|MGLUR1|PPP1R85|SCA44|SCAR13

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q24.3

Description of this Gene: glutamate metabotropic receptor 1

Type of Gene: protein-coding

rs1554274719 in GRM1 gene and SPINOCEREBELLAR ATAXIA 44 PMID 28886343 2017 Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

rs6913400 in GRM1 gene and Suicide PMID 31476763 2019 Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population.

rs17075725 in GRM1 gene and Waist Circumference PMID 29212154 2017 Detection of susceptibility loci on APOA5 and COLEC12 associated with metabolic syndrome using a genome-wide association study in a Taiwanese population.