Natrijum-hloridni simporter

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Familija trasportera rastvorka 12 (natrijum/hloridni transporteri), član 3
Identifikatori
Simboli SLC12A3; NCC; NCCT; TSC
Vanjski ID OMIM600968 MGI108114 HomoloGene287 GeneCards: SLC12A3 Gene
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[uredi - уреди]

  1. 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[uredi - уреди]

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  • 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. 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. 
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  • 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. 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. 

Vanjske veze[uredi - уреди]