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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision.
基因功能參考文獻:
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
Two mutations in GRM6 gene have been identified in two consanguineous Pakistani families with congenital stationary night blindness. PMID: 26628857
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
We found 5 different mutations in GRM6, in congenital stationary night blindness. PMID: 23714322
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
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
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
A positive association was observed between response to methadone and two variants in the genes MYOCD and GRM6. PMID: 20560679
Affected individuals in three of five families carried either compound heterozygous or homozygous mutations in GRM6. PMID: 16249515
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
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
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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相關疾病:
Night blindness, congenital stationary, 1B (CSNB1B)
亞細胞定位:
Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the cell membrane.