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Reviewed February 2011
What is the official name of the SLC12A1 gene?
The official name of this gene is “solute carrier family 12 (sodium/potassium/chloride transporter), member 1.”
SLC12A1 is the gene's official symbol. The SLC12A1 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 SLC12A1 gene?
The SLC12A1 gene provides instructions for making a protein known as NKCC2. This protein is a Na+/K+/2Cl- cotransporter, which means that it moves charged atoms (ions) of sodium (Na+), potassium (K+), and chlorine (Cl-) into cells.
The NKCC2 protein is essential for normal kidney function. The NKCC2 protein works with other transport proteins to regulate the movement of ions into and out of kidney cells. Together, these proteins provide 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 SLC12A1 gene share characteristics with other genes?
The SLC12A1 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 SLC12A1 gene related to health conditions?
Where is the SLC12A1 gene located?
Cytogenetic Location: 15q15-q21.1
Molecular Location on chromosome 15: base pairs 48,206,300 to 48,304,077
The SLC12A1 gene is located on the long (q) arm of chromosome 15 between positions 15 and 21.1.
More precisely, the SLC12A1 gene is located from base pair 48,206,300 to base pair 48,304,077 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLC12A1?
You and your healthcare professional may find the following resources about SLC12A1 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 SLC12A1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 SLC12A1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.