GPR179

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G protein spregnuti receptor 179
Identifikatori
SimboliGPR179; CSNB1E; GPR158L; GPR158L1
Vanjski IDOMIM614515 MGI2443409 HomoloGene34917 IUPHAR: GPR179 GeneCards: GPR179 Gene
Ortolozi
VrstaČovekMiš
Entrez440435217143
EnsemblENSG00000188888ENSMUSG00000070337
UniProtQ6PRD1E9PY61
RefSeq (mRNA)NM_001004334.2NM_001081220.1
RefSeq (protein)NP_001004334.2NP_001074689.1
Lokacija (UCSC)Chr 17:
36.48 - 36.5 Mb
Chr 11:
97.19 - 97.21 Mb
PubMed pretraga[1][2]

G protein spregnuti receptor 179 je protein koji je kod ljudi kodiran GPR179 genom.[1]

Klinički značaj[uredi - уреди | uredi izvor]

Mutacije ovog gena su deo uzroka kongenitalne stacionarne noćne slepoće.[2]

Reference[uredi - уреди | uredi izvor]

  1. "Entrez Gene: GPR179 G protein-coupled receptor 179". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=440435. 
  2. 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. (2012-02-10). "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. PMID 22325361. doi:10.1016/j.ajhg.2011.12.007. 

Literatura[uredi - уреди | uredi izvor]