Natrijum-hloridni simporter
| Familija trasportera rastvorka 12 (natrijum/hloridni transporteri), član 3 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | SLC12A3; NCC; NCCT; TSC | ||||||||||
| Vanjski ID | OMIM: 600968 MGI: 108114 HomoloGene: 287 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 sa katjonima spregnutih hloridnih kotransportera. Kod ljudi, on je kodiran genom SLC12A3 (familija Trasporter rastvorka 12, član 3) lociranim u 16q13.[1]
Reference[uredi | uredi izvor]
- ^ Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G (avgust 1996). „Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)”. Genomics. 35 (3): 486—93. PMID 8812482. doi:10.1006/geno.1996.0388.
Literatura[uredi | uredi izvor]
- LK, Kamdem; Hamilton L; Cheng C (2008). „Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia”. Pharmacogenet. Genomics. 18 (6): 507—14. PMID 18496130. doi:10.1097/FPC.0b013e3282fc5801.
- E, Coto; Arriba G; GarcÃa-Castro M (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. PMID 19420906. doi:10.1159/000218104.
- 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.
- L, Shao; Liu L; Miao Z (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. PMID 18580052. doi:10.1159/000141932.
- van Rijn-Bikker PC; Mairuhu G; GA, van Montfrans (2009). „Genetic factors are relevant and independent determinants of antihypertensive drug effects in a multiracial population”. Am. J. Hypertens. 22 (12): 1295—302. PMID 19779464. doi:10.1038/ajh.2009.192.
- L, Shao; Ren H; Wang W (2008). „Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome”. Nephron Physiol. 108 (3): 29—36. PMID 18287808. doi:10.1159/000117815.
- W, Ji; Foo JN; O'Roak BJ (2008). „Rare independent mutations in renal salt handling genes contribute to blood pressure variation”. Nat. Genet. 40 (5): 592—9. PMC 3766631
. PMID 18391953. doi:10.1038/ng.118. - Riveira-Munoz E; Devuyst O; Belge H (2008). „Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome”. Nephrol. Dial. Transplant. 23 (10): 3120—5. PMID 18469313. doi:10.1093/ndt/gfn229.
- B, Zhou; Zhuang J; Gu D (2010). „WNK4 enhances the degradation of NCC through a sortilin-mediated lysosomal pathway”. J. Am. Soc. Nephrol. 21 (1): 82—92. PMC 2799281 . PMID 19875813. doi:10.1681/ASN.2008121275.
- YJ, Hsu; Yang SS; Chu NF (2009). „Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure”. Nephrol. Dial. Transplant. 24 (4): 1170—5. PMID 19033254. doi:10.1093/ndt/gfn619.
- K, Nozu; Iijima K; Nozu Y (2009). „A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome”. Pediatr. Res. 66 (5): 590—3. PMID 19668106. doi:10.1203/PDR.0b013e3181b9b4d3.
- DP, Ng; Nurbaya S; Choo S (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. PMID 18263927. doi:10.1093/ndt/gfm946.
- N, Aoi; Nakayama T; Sato N (2008). „Case-control study of the role of the Gitelman's syndrome gene in essential hypertension”. Endocr. J. 55 (2): 305—10. PMID 18362449. doi:10.1507/endocrj.K07E-021.
- L, Qin; Shao L; Ren H (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. PMID 19207868. doi:10.1111/j.1440-1797.2008.01042.x.
- Ridker PM, Paré G, Parker AN, (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. PMC 2729193 . PMID 20031564. doi:10.1161/CIRCGENETICS.108.817304.
- C, Richardson; Rafiqi FH; Karlsson HK (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. PMID 18270262. doi:10.1242/jcs.025312.
- XF, Wang; Lin RY; Wang SZ (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. PMID 17997379. doi:10.1016/j.cca.2007.10.017.
- Z, Miao; Gao Y; Bindels RJ (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. PMID 19451210. doi:10.1530/EJE-09-0271.
- YY, Zhan; Jiang X; Lin G (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.
Spoljašnje veze[uredi | uredi izvor]
- Sodium+Chloride+Symporters na US National Library of Medicine Medical Subject Headings (MeSH)
- Sodium+Chloride+Symporter+Inhibitors na US National Library of Medicine Medical Subject Headings (MeSH)
