GRM6 Chromosome 5

Glutamate metabotropic receptor 6
75 variants 75 Health Risk

Upload your DNA to see your personal genotypes for variants in GRM6.

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. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]
Gene Info
Gene Group
Glutamate metabotropic receptors
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000113262
Associated Conditions (8)
Inborn genetic diseases
Congenital stationary night blindness 1B
Ovarian serous cystadenocarcinoma
Retinal dystrophy
Congenital stationary night blindness
GRM6-related disorder
Hepatocellular carcinoma
Leber congenital amaurosis
Key Variants
All Variants (75)
RSID Category Clinical Significance Conditions
RS2480364184 Health Risk Pathogenic
RS2480381288 Health Risk Pathogenic
RS2480388107 Health Risk Pathogenic
RS2480398393 Health Risk Pathogenic
RS2480398616 Health Risk Pathogenic
RS2480400620 Health Risk Pathogenic
RS2480408149 Health Risk Pathogenic
RS281865186 Health Risk Pathogenic Congenital stationary night blindness 1B, GRM6-related disorder, Congenital stationary night blindness 1B
RS62638214 Health Risk Pathogenic Congenital stationary night blindness 1B, Retinal dystrophy, Leber congenital amaurosis
RS62638624 Health Risk Pathogenic Congenital stationary night blindness 1B, Retinal dystrophy, Congenital stationary night blindness 1B
RS748979061 Health Risk Pathogenic
RS751696722 Health Risk Pathogenic
RS752205220 Health Risk Pathogenic GRM6-related disorder, GRM6-related disorder
RS761232961 Health Risk Pathogenic
RS764476239 Health Risk Pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS766594761 Health Risk Pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS767670928 Health Risk Pathogenic
RS778072582 Health Risk Pathogenic
RS778393434 Health Risk Pathogenic
RS781463257 Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS942517034 Health Risk Pathogenic
RS987834241 Health Risk Pathogenic
RS539727841 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS755967391 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS769355168 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
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