GPR179: Difference between revisions
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'''Probable G-protein coupled receptor 179''' is a [[protein]] that in humans is encoded by the ''GPR179'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GPR179 G protein-coupled receptor 179| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=440435| accessdate = }}</ref> | |||
== Clinical relevance == | |||
< | Mutations in this gene have been associated to cases of congenital stationary [[Night Blindness]].<ref name=pmid.22325361>{{cite journal |vauthors=Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C | title = Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness. | journal = American Journal of Human Genetics | volume = 90 | issue = 2 | pages = 321–30 | date = Feb 10, 2012 | pmid = 22325361 | pmc = 3276675 | doi = 10.1016/j.ajhg.2011.12.007 }}</ref> | ||
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==References== | |||
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==Further reading== | ==Further reading== | ||
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*{{cite journal |vauthors=Bjarnadóttir TK, Fredriksson R, Schiöth HB | title = The gene repertoire and the common evolutionary history of glutamate, pheromone (V2R), taste(1) and other related G protein-coupled receptors. | journal = Gene | volume = 362 | issue = | pages = 70–84 | year = 2006 | pmid = 16229975 | doi = 10.1016/j.gene.2005.07.029 }} | |||
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{{G protein-coupled receptors}} | {{G protein-coupled receptors|g3}} | ||
[[Category:G protein-coupled receptors]] | |||
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Latest revision as of 18:00, 24 September 2018
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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Probable G-protein coupled receptor 179 is a protein that in humans is encoded by the GPR179 gene.[1]
Clinical relevance
Mutations in this gene have been associated to cases of congenital stationary Night Blindness.[2]
References
- ↑ "Entrez Gene: GPR179 G protein-coupled receptor 179".
- ↑ Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C (Feb 10, 2012). "Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness". American Journal of Human Genetics. 90 (2): 321–30. doi:10.1016/j.ajhg.2011.12.007. PMC 3276675. PMID 22325361.
Further reading
- Bjarnadóttir TK, Fredriksson R, Schiöth HB (2006). "The gene repertoire and the common evolutionary history of glutamate, pheromone (V2R), taste(1) and other related G protein-coupled receptors". Gene. 362: 70–84. doi:10.1016/j.gene.2005.07.029. PMID 16229975.
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