GRM1
Description
The GRM1 (glutamate metabotropic receptor 1) is a protein-coding gene located on chromosome 6.
GRM1 is a gene encoding the metabotropic glutamate receptor 1 (mGluR1) protein, which is a G protein-coupled receptor activated by glutamate, the primary excitatory neurotransmitter in the central nervous system. mGluR1, along with GRM5, belongs to Group I of the metabotropic glutamate receptor family, which is characterized by activation of phospholipase C. These receptors play a critical role in various brain functions, and their disruption can contribute to neuropathologic conditions. Knockout mice studies have demonstrated that GRM1 is essential for normal brain function. Although alternative splice variants of the GRM1 gene have been described, their full-length nature remains undetermined.
GRM1 encodes a G protein-coupled receptor for glutamate. Ligand binding triggers a conformational change, activating signaling via guanine nucleotide-binding proteins (G proteins) and modulating downstream effectors. This signaling pathway activates a phosphatidylinositol-calcium second messenger system. GRM1 may play a role in the central actions of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum. It may also contribute to light response in the retina.
GRM1 is also known as GPRC1A, MGLU1, MGLUR1, PPP1R85, SCA44, SCAR13.
Associated Diseases
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- Spinocerebellar ataxia, autosomal recessive 13
- Spinocerebellar ataxia 44
