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SLC12A3

SLC12A3

Reviewed February 2011

What is the official name of the SLC12A3 gene?

The official name of this gene is “solute carrier family 12 (sodium/chloride transporter), member 3.”

SLC12A3 is the gene's official symbol. The SLC12A3 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SLC12A3 gene?

The SLC12A3 gene provides instructions for making a protein known as NCC. This protein is a sodium chloride co-transporter, which means that it moves charged atoms (ions) of sodium (Na+) and chlorine (Cl-) across cell membranes.

The NCC protein is essential for normal kidney function. It is part of the mechanism by which kidneys reabsorb salt (sodium chloride or NaCl) from the urine back into the bloodstream. The retention of salt affects the body's fluid levels and helps maintain blood pressure.

Does the SLC12A3 gene share characteristics with other genes?

The SLC12A3 gene belongs to a family of genes called SLC (solute carriers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SLC12A3 gene related to health conditions?

Gitelman syndrome - caused by mutations in the SLC12A3 gene

More than 140 mutations in the SLC12A3 gene have been identified in people with Gitelman syndrome. Most of these mutations change single protein building blocks (amino acids) in the NCC co-transporter protein. These mutations prevent the protein from reaching the cell membrane or alter the protein's ability to transport sodium and chloride ions. Other mutations in the SLC12A3 gene insert or delete genetic material or lead to the production of an abnormally short, nonfunctional version of the NCC protein.

Mutations in the SLC12A3 gene impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.

other disorders - associated with the SLC12A3 gene

Some research suggests that normal variants (polymorphisms) in the SLC12A3 gene may help explain differences in blood pressure between people. Certain rare polymorphisms also appear to protect against high blood pressure (hypertension). Changes in the SLC12A3 gene may affect blood pressure by altering the kidneys' ability to reabsorb salt into the bloodstream. However, some studies have not found any association between variants in the SLC12A3 gene and blood pressure.

Where is the SLC12A3 gene located?

Cytogenetic Location: 16q13

Molecular Location on chromosome 16: base pairs 56,865,206 to 56,915,849

The SLC12A3 gene is located on the long (q) arm of chromosome 16 at position 13.

The SLC12A3 gene is located on the long (q) arm of chromosome 16 at position 13.

More precisely, the SLC12A3 gene is located from base pair 56,865,206 to base pair 56,915,849 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SLC12A3?

You and your healthcare professional may find the following resources about SLC12A3 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC12A3 gene or gene products?

  • NaCl electroneutral thiazide-sensitive cotransporter
  • Na-Cl symporter
  • NCCT
  • S12A3_HUMAN
  • solute carrier family 12 member 3
  • solute carrier family 12 (sodium/chloride transporters), member 3
  • thiazide-sensitive Na-Cl cotransporter
  • thiazide-sensitive sodium-chloride cotransporter
  • TSC

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC12A3?

acids ; calcium ; carrier ; cell ; cell membrane ; chloride ; distal ; gene ; hypertension ; ions ; kidney ; Na ; NaCl ; potassium ; protein ; sodium ; sodium chloride ; solute ; syndrome ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (11 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: February 2011
Published: August 18, 2014