GPR179

G protein spregnuti receptor 179
Identifikatori
Simboli GPR179; CSNB1E; GPR158L; GPR158L1
Vanjski ID OMIM614515 MGI2443409 HomoloGene34917 IUPHAR: GPR179 GeneCards: GPR179 Gene
Ortolozi
Vrsta Čovek Miš
Entrez 440435 217143
Ensembl ENSG00000188888 ENSMUSG00000070337
UniProt Q6PRD1 E9PY61
RefSeq (mRNA) NM_001004334.2 NM_001081220.1
RefSeq (protein) NP_001004334.2 NP_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

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

Reference

  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 (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