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维基百科

鈉氯同向轉運體

一月 30, 2023

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]

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
直系同源体
物种 人类 小鼠
Entrez 6559 20497
Ensembl ENSG00000070915 ENSMUSG00000031766
UniProt P55017 P59158
mRNA序列 NM_000339 NM_001205311
蛋白序列 NP_000330 NP_001192240
基因位置 Chr 16:
56.9 – 56.95 Mb		 Chr 8:
94.33 – 94.37 Mb
PubMed查询 [1] [2]

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

註釋

  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. 

延伸閱讀

  • Kamdem LK, Hamilton L, Cheng C; et al. Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. Pharmacogenet. Genomics. 2008, 18 (6): 507–14. PMID 18496130. doi:10.1097/FPC.0b013e3282fc5801. 
  • Coto E, Arriba G, GarcÃa-Castro M; et al. Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation. Am. J. Nephrol. 2009, 30 (3): 218–21. PMID 19420906. doi:10.1159/000218104. 
  • Yasujima M, Tsutaya S. [Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population—the Iwaki Health Promotion Project]. Rinsho Byori. 2009, 57 (4): 391–6. PMID 19489442. 
  • Shao L, Liu L, Miao Z; et al. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney. Am. J. Nephrol. 2008, 28 (6): 900–7. PMID 18580052. doi:10.1159/000141932. 
  • van Rijn-Bikker PC, Mairuhu G, van Montfrans GA; et al. Genetic factors are relevant and independent determinants of antihypertensive drug effects in a multiracial population. Am. J. Hypertens. 2009, 22 (12): 1295–302. PMID 19779464. doi:10.1038/ajh.2009.192. 
  • Shao L, Ren H, Wang W; et al. Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome. Nephron Physiol. 2008, 108 (3): p29–36. PMID 18287808. doi:10.1159/000117815. 
  • 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, Paré 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

一月 30, 2023
鈉氯同向轉運體, sodium, chloride, symporter, 亦稱為鈉氯協同轉運蛋白, cotransporter, 簡稱為ncc, 或ncct, 或敏感噻嗪類鈉氯協同轉運蛋白, thiazide, sensitive, 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. 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 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 transportSources Amigo QuickGO直系同源体物种人类小鼠Entrez655920497EnsemblENSG00000070915ENSMUSG00000031766UniProtP55017P59158mRNA序列NM 000339NM 001205311蛋白序列NP 000330NP 001192240基因位置Chr 16 56 9 56 95 MbChr 8 94 33 94 37 MbPubMed查询 1 2 查论编 目录 1 分子生物學 2 功能 3 病理 3 1 吉特曼氏綜合症 3 2 高血壓及血壓 3 3 假性醛固酮減少症II型 4 參見 5 註釋 6 延伸閱讀 7 外部連結分子生物學 编辑鈉氯同向轉運體或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 编辑病理 编辑吉特曼氏綜合症 编辑 高血壓及血壓 编辑 假性醛固酮減少症II型 编辑參見 编辑腎單位 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 编辑 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 编辑Kamdem LK Hamilton L Cheng C et al Genetic predictors of glucocorticoid induced hypertension in children with acute lymphoblastic leukemia Pharmacogenet Genomics 2008 18 6 507 14 PMID 18496130 doi 10 1097 FPC 0b013e3282fc5801 引文格式1维护 显式使用等标签 link Coto E Arriba G GarcAa Castro M et al Clinical and analytical findings in Gitelman s syndrome associated with homozygosity for the c 1925 G gt A SLC12A3 mutation Am J Nephrol 2009 30 3 218 21 PMID 19420906 doi 10 1159 000218104 引文格式1维护 显式使用等标签 link Yasujima M Tsutaya S Mutational analysis of a thiazide sensitive Na Cl cotransporter SLC12A3 gene in a Japanese population the Iwaki Health Promotion Project Rinsho Byori 2009 57 4 391 6 PMID 19489442 Shao L Liu L Miao Z et al A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney Am J Nephrol 2008 28 6 900 7 PMID 18580052 doi 10 1159 000141932 引文格式1维护 显式使用等标签 link van Rijn Bikker PC Mairuhu G van Montfrans GA et al Genetic factors are relevant and independent determinants of antihypertensive drug effects in a multiracial population Am J Hypertens 2009 22 12 1295 302 PMID 19779464 doi 10 1038 ajh 2009 192 引文格式1维护 显式使用等标签 link Shao L Ren H Wang W et al Novel SLC12A3 mutations in Chinese patients with Gitelman s syndrome Nephron Physiol 2008 108 3 p29 36 PMID 18287808 doi 10 1159 000117815 引文格式1维护 冗余文本 link 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link Ridker PM ParA c 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 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 引文格式1维护 显式使用等标签 link 外部連結 编辑醫學主題詞表 MeSH Sodium Chloride Symporters 醫學主題詞表 MeSH Sodium Chloride Symporter InhibitorsTemplate Solute carrier family 取自 https zh wikipedia org w index php title 鈉氯同向轉運體 amp oldid 70683999, 维基百科，wiki，书籍，书籍，图书馆，

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