Natrijum-hloridni simporter
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| Familija trasportera rastvorka 12 (natrijum/hloridni transporteri), član 3 | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | SLC12A3; NCC; NCCT; TSC | ||||||||||
| Vanjski ID | OMIM: 600968 MGI: 108114 HomoloGene: 287 GeneCards: SLC12A3 Gene | ||||||||||
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| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 6559 | 20497 | |||||||||
| Ensembl | ENSG00000070915 | ENSMUSG00000031766 | |||||||||
| UniProt | P55017 | P59158 | |||||||||
| Ref. Sekv. (iRNK) | NM_000339 | NM_001205311 | |||||||||
| Ref. Sekv. (protein) | NP_000330 | NP_001192240 | |||||||||
| Lokacija (UCSC) | Chr 16: 56.9 - 56.95 Mb | Chr 8: 94.33 - 94.37 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Natrijum-hloridni simporter (takođe poznat kao Na+-Cl− kotransporter, skraćeno NCC ili NCCT, ili kao tiazid-senzitivni Na+-Cl− kotransporter, TSC) je kotransporter u bubrezima koji deluje tako što reapsorbuje jone natrijuma i hlorida iz tubularnog fluida u ćelije distalne tubule nefrona. On je član SLC12 kotransporterske familije, elektroneutralnih s katjonom spregnutih hloridnih kotransportera. Kod ljudi, on je kodiran genom SLC12A3 (familija trasportera rastvorka 12, član 3) lociranim u 16q13.[1]
Reference
- ↑ Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G (August 1996). „Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)”. Genomics 35 (3): 486–93. DOI:10.1006/geno.1996.0388. PMID 8812482.
Literatura
- Kamdem LK, Hamilton L, Cheng C, et al. (2008). „Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia”. Pharmacogenet. Genomics 18 (6): 507–14. DOI:10.1097/FPC.0b013e3282fc5801. PMID 18496130.
- Coto E, Arriba G, GarcÃa-Castro M, et al. (2009). „Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation”. Am. J. Nephrol. 30 (3): 218–21. DOI:10.1159/000218104. PMID 19420906.
- Yasujima M, Tsutaya S (2009). „[Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population—the Iwaki Health Promotion Project]”. Rinsho Byori 57 (4): 391–6. PMID 19489442.
- Shao L, Liu L, Miao Z, et al. (2008). „A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney”. Am. J. Nephrol. 28 (6): 900–7. DOI:10.1159/000141932. PMID 18580052.
- van Rijn-Bikker PC, Mairuhu G, van Montfrans GA, et al. (2009). „Genetic factors are relevant and independent determinants of antihypertensive drug effects in a multiracial population”. Am. J. Hypertens. 22 (12): 1295–302. DOI:10.1038/ajh.2009.192. PMID 19779464.
- Shao L, Ren H, Wang W, et al. (2008). „Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome”. Nephron Physiol 108 (3): p29–36. DOI:10.1159/000117815. PMID 18287808.
- Ji W, Foo JN, O'Roak BJ, et al. (2008). „Rare independent mutations in renal salt handling genes contribute to blood pressure variation”. Nat. Genet. 40 (5): 592–9. DOI:10.1038/ng.118. PMC 3766631. PMID 18391953.
- Riveira-Munoz E, Devuyst O, Belge H, et al. (2008). „Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome”. Nephrol. Dial. Transplant. 23 (10): 3120–5. DOI:10.1093/ndt/gfn229. PMID 18469313.
- Zhou B, Zhuang J, Gu D, et al. (2010). „WNK4 enhances the degradation of NCC through a sortilin-mediated lysosomal pathway”. J. Am. Soc. Nephrol. 21 (1): 82–92. DOI:10.1681/ASN.2008121275. PMC 2799281. PMID 19875813.
- Hsu YJ, Yang SS, Chu NF, et al. (2009). „Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure”. Nephrol. Dial. Transplant. 24 (4): 1170–5. DOI:10.1093/ndt/gfn619. PMID 19033254.
- Nozu K, Iijima K, Nozu Y, et al. (2009). „A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome”. Pediatr. Res. 66 (5): 590–3. DOI:10.1203/PDR.0b013e3181b9b4d3. PMID 19668106.
- Ng DP, Nurbaya S, Choo S, et al. (2008). „Genetic variation at the SLC12A3 locus is unlikely to explain risk for advanced diabetic nephropathy in Caucasians with type 2 diabetes”. Nephrol. Dial. Transplant. 23 (7): 2260–4. DOI:10.1093/ndt/gfm946. PMID 18263927.
- Aoi N, Nakayama T, Sato N, et al. (2008). „Case-control study of the role of the Gitelman's syndrome gene in essential hypertension”. Endocr. J. 55 (2): 305–10. DOI:10.1507/endocrj.K07E-021. PMID 18362449.
- Qin L, Shao L, Ren H, et al. (2009). „Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome”. Nephrology (Carlton) 14 (1): 52–8. DOI:10.1111/j.1440-1797.2008.01042.x. PMID 19207868.
- Ridker PM, Paré G, Parker AN, et al. (2009). „Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study”. Circ Cardiovasc Genet 2 (1): 26–33. DOI:10.1161/CIRCGENETICS.108.817304. PMC 2729193. PMID 20031564.
- Richardson C, Rafiqi FH, Karlsson HK, et al. (2008). „Activation of the thiazide-sensitive Na+-Cl− cotransporter by the WNK-regulated kinases SPAK and OSR1”. J. Cell. Sci. 121 (Pt 5): 675–84. DOI:10.1242/jcs.025312. PMID 18270262.
- Wang XF, Lin RY, Wang SZ, et al. (2008). „Association study of variants in two ion-channel genes (TSC and CLCNKB) and hypertension in two ethnic groups in Northwest China”. Clin. Chim. Acta 388 (1–2): 95–8. DOI:10.1016/j.cca.2007.10.017. PMID 17997379.
- Miao Z, Gao Y, Bindels RJ, et al. (2009). „Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na–Cl cotransporter mutations”. Eur. J. Endocrinol. 161 (2): 275–83. DOI:10.1530/EJE-09-0271. PMID 19451210.
- Zhan YY, Jiang X, Lin G, et al. (2007). „[Association of thiazide-sensitive Na+-Cl* cotransporter gene polymorphisms with the risk of essential hypertension]”. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24 (6): 703–5. PMID 18067089.
