GPR179
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G protein spregnuti receptor 179 je protein koji je kod ljudi kodiran GPR179 genom.[1]
| G protein spregnuti receptor 179 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | GPR179; CSNB1E; GPR158L; GPR158L1 | ||||||||||
| Vanjski ID | OMIM: 614515 MGI: 2443409 HomoloGene: 34917 IUPHAR: GPR179 GeneCards: GPR179 Gene | ||||||||||
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| 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] | |||||||||
Klinički značaj uredi
Mutacije ovog gena su deo uzroka kongenitalne stacionarne noćne slepoće.[2]
Reference uredi
- ↑ „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. (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. DOI:10.1016/j.ajhg.2011.12.007. PMID 22325361.
Literatura uredi
- 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.
- Zody MC, Garber M, Adams DJ, et al. (2006). „DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.”. Nature 440 (7087): 1045–9. DOI:10.1038/nature04689. PMC 2610434. PMID 16625196.