GPR179

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G protein-coupled receptor 179
Identifiers
Symbols GPR179 ; CSNB1E; GPR158L; GPR158L1
External IDs OMIM614515 MGI2443409 HomoloGene34917 IUPHAR: GPR179 GeneCards: GPR179 Gene
Orthologs
Species Human Mouse
Entrez 440435 217143
Ensembl ENSG00000188888 ENSMUSG00000070337
UniProt Q6PRD1 E9PY61
RefSeq (mRNA) NM_001004334 NM_001081220
RefSeq (protein) NP_001004334 NP_001074689
Location (UCSC) Chr 17:
36.48 – 36.5 Mb
Chr 11:
97.33 – 97.35 Mb
PubMed search [1] [2]

Probable G-protein coupled receptor 179 is a protein that in humans is encoded by the GPR179 gene.[1]


Clinical relevance[edit]

Mutations in this gene have been associated to cases of Congenital Stationary Night Blindness.[2]

References[edit]

  1. ^ "Entrez Gene: GPR179 G protein-coupled receptor 179". 
  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 (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. PMID 22325361. 

Further reading[edit]