Metabotropic glutamate receptor 6
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Location (UCSC) | Chr 5: 178.98 – 179 Mb | Chr 11: 50.74 – 50.76 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
Glutamate receptor, metabotropic 6, also known as GRM6 or mGluR6, is a protein which in humans is encoded by the GRM6 gene.[5][6]
Function
L-
mGluR6 is specifically expressed in the retina, in a subtype of bipolar cells that depolarize in response to light, known as ON bipolar cells. These cells form synapses with photoreceptor cells, and detect the neurotransmitter glutamate via a GPCR signal transduction cascade. The glutamate receptor mGluR6 is located post-synaptically at the tips of the bipolar cell dendrites, and is responsible for initiating a signaling cascade that ultimately controls gating of the TRPM1 channel.[7][8] In human patients, mutations in the GRM6 gene are associated with congenital stationary night blindness.[9][10]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000113262 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000617 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: GRM6 glutamate receptor, metabotropic 6".
- S2CID 25387864.
- PMID 8389366.
- S2CID 17081238.
- PMID 15781871.
- PMID 16249515.
Further reading
- Hashimoto T, Inazawa J, Okamoto N, et al. (1997). "The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6". Eur. J. Neurosci. 9 (6): 1226–35. S2CID 25387864.
- Dhingra A, Lyubarsky A, Jiang M, et al. (2001). "The light response of ON bipolar neurons requires G[alpha]o". J. Neurosci. 20 (24): 9053–8. PMID 11124982.
- Valerio A, Ferraboli S, Paterlini M, et al. (2001). "Identification of novel alternatively-spliced mRNA isoforms of metabotropic glutamate receptor 6 gene in rat and human retina". Gene. 262 (1–2): 99–106. PMID 11179672.
- Dryja TP, McGee TL, Berson EL, et al. (2005). "Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6". Proc. Natl. Acad. Sci. U.S.A. 102 (13): 4884–9. PMID 15781871.
- Zeitz C, van Genderen M, Neidhardt J, et al. (2005). "Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram". Invest. Ophthalmol. Vis. Sci. 46 (11): 4328–35. PMID 16249515.
- Zeitz C, Forster U, Neidhardt J, et al. (2007). "Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking". Hum. Mutat. 28 (8): 771–80. S2CID 24946081.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.