GRM8 Chromosome 7

Glutamate metabotropic receptor 8
1 variant 1 Health Risk

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What This Gene Does
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 metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Glutamate metabotropic receptors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7q31.33
Ensembl
ENSG00000179603
Associated Conditions (1)
GRM8-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS112220743 Health Risk Conflicting classifications of pathogenicity GRM8-related disorder, GRM8-related disorder
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