鈉氯同向轉運體

溶質載體家族12(鈉/氯轉運體)、成員3
溶質載體家族12(鈉/氯轉運體)、成員3
标识
代号	SLC12A3; NCC; NCCT; TSC
扩展标识	遗传学：600968 鼠基因：108114 同源基因：287 ChEMBL: 1876 GeneCards: SLC12A3 Gene
基因本体论描述
分子功能	· transporter activity; · protein binding; · sodium:chloride symporter activity;
细胞成分	· cytosol; · plasma membrane; · integral component of plasma membrane; · membrane; · apical plasma membrane; · extracellular vesicular exosome;
生物过程	· transport; · ion transport; · sodium ion transport; · chloride transport; · sodium ion transmembrane transport; · transmembrane transport; · chloride transmembrane transport;
	Sources: Amigo / QuickGO
直系同源体
物种	人类
Entrez	6559
Ensembl	ENSG00000070915
UniProt	P55017
mRNA序列	NM_000339
蛋白序列	NP_000330
基因位置	Chr 16:; 56.9 – 56.95 Mb
PubMed查询	[1]
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鈉氯同向轉運體(sodium-chloride symporter、亦稱為鈉氯協同轉運蛋白(Na⁺-Cl⁻ cotransporter)、簡稱為NCC或NCCT，或敏感噻嗪類鈉氯協同轉運蛋白(thiazide-sensitive Na⁺-Cl⁻ cotransporter)、或簡稱TSC，鈉氯離子同向轉運體)是在腎臟的一個協同轉運蛋白(cotransporter)其具有再吸收鈉及氯離子的功能，並從腎小管液進入腎的遠曲小管細胞內。它是"電中性的陽離子結合氯離子的協同轉運蛋白"之SLC12協同轉運蛋白家族的一個成員。在人類中，它是由位於16q13的SLC12A3基因(溶質載體家族12成員的第3)所編碼。^[1]

分子生物學

鈉氯同向轉運體或NCC是"電中性的陽離子結合氯離子的協同轉運蛋白"之SLC12協同轉運蛋白家族的一員，伴隨著鉀氯共轉運蛋白(K⁺-Cl⁻協同轉運蛋白或KCCs)、鈉鉀氯共轉運蛋白(Na⁺-K⁺-Cl⁻協同轉運蛋白或NKCCs)及孤兒成員CIP(協同轉運蛋白相互作用蛋白)與CCC9。

功能

病理

吉特曼氏綜合症

高血壓及血壓

假性醛固酮減少症II型

參見

腎單位
遠曲小管(Distal convoluted tubule)
电解质，如钠及氯化物
協同轉運蛋白(Cotransporter)，包括同向轉運體(symporter)
血壓
利尿劑及噻嗪類(thiazide)

註釋

^ Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics. August 1996, 35 (3): 486–93. PMID 8812482. doi:10.1006/geno.1996.0388.

延伸閱讀

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Ji W, Foo JN, O'Roak BJ; et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet. 2008, 40 (5): 592–9. PMC 3766631 . PMID 18391953. doi:10.1038/ng.118.
Riveira-Munoz E, Devuyst O, Belge H; et al. Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome. Nephrol. Dial. Transplant. 2008, 23 (10): 3120–5. PMID 18469313. doi:10.1093/ndt/gfn229.
Zhou B, Zhuang J, Gu D; et al. WNK4 enhances the degradation of NCC through a sortilin-mediated lysosomal pathway. J. Am. Soc. Nephrol. 2010, 21 (1): 82–92. PMC 2799281 . PMID 19875813. doi:10.1681/ASN.2008121275.
Hsu YJ, Yang SS, Chu NF; et al. Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. Nephrol. Dial. Transplant. 2009, 24 (4): 1170–5. PMID 19033254. doi:10.1093/ndt/gfn619.
Nozu K, Iijima K, Nozu Y; et al. A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome. Pediatr. Res. 2009, 66 (5): 590–3. PMID 19668106. doi:10.1203/PDR.0b013e3181b9b4d3.
Ng DP, Nurbaya S, Choo S; et al. Genetic variation at the SLC12A3 locus is unlikely to explain risk for advanced diabetic nephropathy in Caucasians with type 2 diabetes. Nephrol. Dial. Transplant. 2008, 23 (7): 2260–4. PMID 18263927. doi:10.1093/ndt/gfm946.
Aoi N, Nakayama T, Sato N; et al. Case-control study of the role of the Gitelman's syndrome gene in essential hypertension. Endocr. J. 2008, 55 (2): 305–10. PMID 18362449. doi:10.1507/endocrj.K07E-021.
Qin L, Shao L, Ren H; et al. Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. Nephrology (Carlton). 2009, 14 (1): 52–8. PMID 19207868. doi:10.1111/j.1440-1797.2008.01042.x.
Ridker PM, ParÃ© G, Parker AN; et al. 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. 2009, 2 (1): 26–33. PMC 2729193 . PMID 20031564. doi:10.1161/CIRCGENETICS.108.817304.
Richardson C, Rafiqi FH, Karlsson HK; et al. Activation of the thiazide-sensitive Na⁺-Cl⁻ cotransporter by the WNK-regulated kinases SPAK and OSR1. J. Cell. Sci. 2008, 121 (Pt 5): 675–84. PMID 18270262. doi:10.1242/jcs.025312.
Wang XF, Lin RY, Wang SZ; et al. Association study of variants in two ion-channel genes (TSC and CLCNKB) and hypertension in two ethnic groups in Northwest China. Clin. Chim. Acta. 2008, 388 (1–2): 95–8. PMID 17997379. doi:10.1016/j.cca.2007.10.017.
Miao Z, Gao Y, Bindels RJ; et al. Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na–Cl cotransporter mutations. Eur. J. Endocrinol. 2009, 161 (2): 275–83. PMID 19451210. doi:10.1530/EJE-09-0271.
Zhan YY, Jiang X, Lin G; et al. [Association of thiazide-sensitive Na⁺-Cl* cotransporter gene polymorphisms with the risk of essential hypertension]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007, 24 (6): 703–5. PMID 18067089.

外部連結

Template:Solute carrier family

[pmid8812482-1] Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics. August 1996, 35 (3): 486–93. PMID 8812482. doi:10.1006/geno.1996.0388.

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