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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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
More than 40 mutations in the SLC12A1 gene have been identified in people with Bartter syndrome type I. This form of the disorder is very severe, causing life-threatening health problems that become apparent before or soon after birth.
Most of the SLC12A1 gene mutations responsible for Bartter syndrome change single protein building blocks (amino acids) in the NKCC2 protein. Other mutations delete amino acids from the protein or lead to the production of an abnormally short version of the NKCC2 protein. Each of the known mutations prevents the NKCC2 protein from transporting ions into kidney cells. As a result, the kidneys cannot reabsorb salt normally and excess salt is lost through the urine (salt wasting). The abnormal salt loss disrupts the normal balance of sodium, potassium, and other ions in the body. These imbalances underlie the major features of Bartter syndrome.
Studies suggest that normal variants (polymorphisms) in the SLC12A1 gene may help explain variations in blood pressure seen in different people. Certain rare polymorphisms appear to protect against high blood pressure (hypertension), and researchers speculate that other genetic variants might increase the risk of developing high blood pressure. Changes in the SLC12A1 gene may affect blood pressure by altering the kidneys' ability to reabsorb salt into the bloodstream.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; carrier ; chloride ; 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 (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.