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GRM6 glutamate metabotropic receptor 6

Gene ID: 2916, updated on 2-Oct-2018
Also known as: mGlu6; CSNB1B; GPRC1F; MGLUR6

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. [provided by RefSeq, May 2018]

Associated conditions

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DescriptionTests
Congenital stationary night blindness, type 1B
MedGen: C1850362OMIM: 257270GeneReviews: Not available
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Genomic context

Location:
5q35.3
Sequence:
Chromosome: 5; NC_000005.10 (178978327..178995123, complement)
Total number of exons:
10

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