GPR179
| G protein spregnuti receptor 179 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | GPR179; CSNB1E; GPR158L; GPR158L1 | ||||||||||
| Vanjski ID | OMIM: 614515 MGI: 2443409 HomoloGene: 34917 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
[уреди | уреди извор]Mutacije ovog gena su deo uzroka kongenitalne stacionarne noćne slepoće.[2]
Reference
[уреди | уреди извор]- ^ „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. PMID 22325361. doi:10.1016/j.ajhg.2011.12.007.
Literatura
[уреди | уреди извор]- 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. PMID 16229975. doi:10.1016/j.gene.2005.07.029.
- 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. PMC 2610434
. PMID 16625196. doi:10.1038/nature04689.