GRM1 Chromosome 6
Glutamate metabotropic receptor 1
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What This Gene Does
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. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
6q24.3
Ensembl
ENSG00000152822
Associated Conditions (7)
See cases
GRM1-related disorder
Ovarian serous cystadenocarcinoma
Autosomal recessive spinocerebellar ataxia 13
Spinocerebellar ataxia 44
Cerebellar ataxia
Global developmental delay
Key Variants
RS1227591846
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1383948929
Conflicting classifications of pathogenicity
Health Risk
RS1416889105
Conflicting classifications of pathogenicity
Health Risk
RS143544032
Conflicting classifications of pathogenicity
GRM1-related disorder, Ovarian serous cystadenocarcinoma, GRM1-related disorder
Health Risk
RS1583494731
Conflicting classifications of pathogenicity
Health Risk
RS557241976
Conflicting classifications of pathogenicity
Health Risk
RS72225459
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13
Health Risk
RS752403373
Conflicting classifications of pathogenicity
Health Risk
RS7760248
Conflicting classifications of pathogenicity
GRM1-related disorder, GRM1-related disorder
Health Risk
RS1554308513
Likely pathogenic
Spinocerebellar ataxia 44, Spinocerebellar ataxia 44
Health Risk
RS2484163618
Likely pathogenic
Health Risk
RS757382637
Likely pathogenic
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1227591846 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1383948929 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1416889105 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143544032 | Health Risk | Conflicting classifications of pathogenicity | GRM1-related disorder, Ovarian serous cystadenocarcinoma, GRM1-related disorder |
| RS1583494731 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS557241976 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS72225459 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13 |
| RS752403373 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS7760248 | Health Risk | Conflicting classifications of pathogenicity | GRM1-related disorder, GRM1-related disorder |
| RS1554308513 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 44, Spinocerebellar ataxia 44 |
| RS2484163618 | Health Risk | Likely pathogenic | — |
| RS757382637 | Health Risk | Likely pathogenic | — |
| RS1554274719 | Health Risk | Pathogenic | Spinocerebellar ataxia 44, Spinocerebellar ataxia 44 |
| RS1554317158 | Health Risk | Pathogenic | Spinocerebellar ataxia 44, Spinocerebellar ataxia 44 |
| RS2483930312 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13 |
| RS2484001104 | Health Risk | Pathogenic | Cerebellar ataxia, Cerebellar ataxia |
| RS774214806 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 13, Global developmental delay, Autosomal recessive spinocerebellar ataxia 13 |
| RS988699004 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13 |
| RS758809498 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13 |