GRM1
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 (PubMed:24603153, PubMed:28886343, PubMed:7476890). May function in the light response in the retina (By similarity). Induces GRID1 and GRID2 cation-channel activation via GNAQ-PLC-PKC pathway in dopaminergic neurons and cerebellar Purkinje cell, respectively (PubMed:24357660, PubMed:27276689).
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, 13
SCAR13
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound intellectual disability with poor or absent speech as well as gait and stance ataxia and hyperreflexia.
None
The disease is caused by variants affecting the gene represented in this entry.
Spinocerebellar ataxia 44
SCA44
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA44 is a slowly progressive, autosomal dominant form.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the G-protein coupled receptor 3 family.
Tissue Specificity
Detected in brain.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Postsynaptic cell membrane
- Multi-pass membrane protein
Alternative names
GPRC1A, MGLUR1, GRM1, Metabotropic glutamate receptor 1, mGluR1