GRM6 Antibody

1. Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated. PMID: 27034204
2. Two mutations in GRM6 gene have been identified in two consanguineous Pakistani families with congenital stationary night blindness. PMID: 26628857
3. These data suggest differences in coupling of TRPM1 function to mGluR6 signaling explain different cellular responses to glutamate in the retina and the skin. PMID: 23452348
4. We found 5 different mutations in GRM6, in congenital stationary night blindness. PMID: 23714322
5. The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina. PMID: 22959359
6. The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB). PMID: 22735794
7. The phenotype associated with GRM6 mutation is variable in terms of presentation, refractive error, visual acuity and macular function. ERGs are electronegative and suggest ON-pathway dysfunction. PMID: 22008250
8. A positive association was observed between response to methadone and two variants in the genes MYOCD and GRM6. PMID: 20560679
9. Affected individuals in three of five families carried either compound heterozygous or homozygous mutations in GRM6. PMID: 16249515
10. The ligand-binding and the poorly characterized cysteine-rich domains, in addition to the intracellular domains, have a pivotal role in correct trafficking of metabotropic glutamate receptors to the cell surface. PMID: 17405131
11. A switch in G-protein coupling, in which glutamate775lysine loses G(o) subunit coupling but retains coupling to G(i), may explain the highly specialized metabotropic glutamate receptor mGlur6 phenotype. PMID: 19666700
12. Three novel variations with potential functional consequences were identified in the GRM6 of patients with high myopia, suggesting a potential role in the development of myopia in rare cases. PMID: 19862333

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HGNC: 4598

OMIM: 257270

KEGG: hsa:2916

STRING: 9606.ENSP00000231188

UniGene: Hs.248131