Sodium-chloride symporter

SLC12A3
Identifiers
AliasesSLC12A3, NCC, NCCT, TSC, solute carrier family 12 member 3, Sodium-chloride symporter
External IDsOMIM: 600968; MGI: 108114; HomoloGene: 287; GeneCards: SLC12A3; OMA:SLC12A3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000339
NM_001126107
NM_001126108

NM_001205311
NM_019415

RefSeq (protein)

NP_000330
NP_001119579
NP_001119580

NP_001192240
NP_062288

Location (UCSC)Chr 16: 56.87 – 56.92 MbChr 8: 95.06 – 95.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The sodium-chloride symporter (also known as Na+-Cl cotransporter, NCC or NCCT, or as the thiazide-sensitive Na+-Cl cotransporter or TSC) is a cotransporter in the kidney which has the function of reabsorbing sodium and chloride ions from the tubular fluid into the cells of the distal convoluted tubule of the nephron. It is a member of the SLC12 cotransporter family of electroneutral cation-coupled chloride cotransporters. In humans, it is encoded by the SLC12A3 gene (solute carrier family 12 member 3) located in 16q13.[5]

A loss of NCC function causes Gitelman syndrome, an autosomic recessive disease characterized by salt wasting and low blood pressure, hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.[6] Over a hundred different mutations in the NCC gene have been identified.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000070915Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031766Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, et al. (August 1996). "Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)". Genomics. 35 (3): 486–493. doi:10.1006/geno.1996.0388. PMID 8812482.
  6. ^ Knoers NV, Levtchenko EN (July 2008). "Gitelman syndrome". Orphanet Journal of Rare Diseases. 3: 22. doi:10.1186/1750-1172-3-22. PMC 2518128. PMID 18667063.