Solute carrier family 12 member 3 (SLC12A3) is also known as thiazide-sensitive Na+-Cl- cotransporter (NCCT). It is expressed in the apical cells of the distal convoluted tubule. The gene encoding this 1021 amino acid protein is localized on human chromosome 16q13. The gene ID for the protein is 6559.
Specificity
Detects ~160 kDa.
Immunogen
AA74-95 (rat), 76-97 (hum)
Biochem/physiol Actions
Solute carrier family 12 member 3 (SLC12A3) is one of the major components of the sodium chloride reabsorption pathway. It controls the Cl- concentration and is also involved in the transepithelial ion absorption and secretion. Mutations in the gene encoding SLC12A3 have been associated with Gitelman syndrome.
This Na-Cl cotransporter is associated with maintaining blood pressure.
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Physical form
PBS, 50% glycerol, and 0.09% sodium azide
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Acta biochimica et biophysica Sinica, 47(5), 325-334 (2015-04-07)
The thiazide-sensitive Na(+)-Cl(-) cotransporter (TSC) is responsible for the major sodium chloride reabsorption pathway, which is located in the apical membrane of the epithelial cells of the distal convoluted tubule. TSC is involved in several physiological activities including transepithelial ion
Gitelman syndrome (GS) is a salt-wasting tubulointerstitial disease of autosomal recessive inheritance (OMIM613395) caused by genic mutation of SLC12A3, which codes thiazide-sensitive Na-Cl cotransporter (NCCT) gene. The gene mutation of the majority of GS patients is compound heterozygous. This study
Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population
An C, et al.
Lipids in Health and Disease, 17(1), 83-83 (2018)
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