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Reviewed January 2015
What is the official name of the ABCC6 gene?
The official name of this gene is “ATP-binding cassette, sub-family C (CFTR/MRP), member 6.”
ABCC6 is the gene's official symbol. The ABCC6 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 ABCC6 gene?
The ABCC6 gene provides instructions for making a protein called multidrug resistance-associated protein 6 (MRP6, also known as the ABCC6 protein). This protein is found primarily in the liver and kidneys, with small amounts in other tissues such as the skin, stomach, blood vessels, and eyes. The MRP6 protein belongs to a group of proteins that transport molecules across cell membranes; however, little is known about the substances transported by MRP6.
Some studies suggest that MRP6 stimulates the release of a molecule called adenosine triphosphate (ATP) from cells through an unknown mechanism. This ATP is quickly broken down into other molecules called adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate helps control deposition of calcium (calcification) and other minerals (mineralization) in the body.
Other studies suggest that MRP6 transports a substance that is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues.
Does the ABCC6 gene share characteristics with other genes?
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 ABCC6 gene related to health conditions?
Where is the ABCC6 gene located?
Cytogenetic Location: 16p13.1
Molecular Location on chromosome 16: base pairs 16,149,564 to 16,223,672
The ABCC6 gene is located on the short (p) arm of chromosome 16 at position 13.1.
More precisely, the ABCC6 gene is located from base pair 16,149,564 to base pair 16,223,672 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ABCC6?
You and your healthcare professional may find the following resources about ABCC6 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 ABCC6 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 ABCC6?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (20 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.