Gene: GRM6

Alternate names for this Gene: CSNB1B|GPRC1F|MGLUR6|mGlu6

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: glutamate metabotropic receptor 6

Type of Gene: protein-coding

rs62638214 in GRM6 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121434304 in GRM6 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B PMID 15781871 2005 Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

PMID 23714322 2013 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

PMID 17405131 2007 Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

rs62638197 in GRM6 gene and Night blindness, congenital stationary PMID 16249515 2005 Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

PMID 22008250 2012 A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.