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ABCC6

ABCC6

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?

The ABCC6 gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPases).

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?

generalized arterial calcification of infancy - caused by mutations in the ABCC6 gene

At least 13 mutations in the ABCC6 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by abnormal calcification in the blood vessels that carry blood from the heart to the rest of the body (the arteries). Most of these mutations have also been identified in people with pseudoxanthoma elasticum (PXE), described below. These mutations lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to GACI. This shortage may impair the release of ATP from cells. As a result, little pyrophosphate is produced and calcium accumulates in the blood vessels and other tissues affected by GACI. Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium characteristic of GACI. It is not known why the same mutations can cause GACI in some individuals and PXE in others.

pseudoxanthoma elasticum - caused by mutations in the ABCC6 gene

More than 200 ABCC6 gene mutations that cause pseudoxanthoma elasticum (PXE) have been identified. PXE is a condition characterized by abnormal accumulation of calcium and other minerals in elastic fibers, a component of connective tissues that provide strength and flexibility to structures throughout the body. The ABCC6 gene mutations involved in this condition lead to an absence of MRP6 protein or an altered protein that does not function properly. The most common mutation in the United States, found in about 28 percent of people with PXE, deletes part of the ABCC6 gene. (This mutation is written as Ex23_29del.)

It is unclear how loss of MRP6 function leads to PXE. As in GACI (described above), this loss may impair the release of ATP or the transport of a substance that normally prevents mineralization. Without MRP6 function, calcium and other minerals accumulate in elastic fibers of the skin, eyes, blood vessels and other tissues affected by PXE.

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.

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?

  • ABC34
  • anthracycline resistance-associated protein
  • ARA
  • EST349056
  • MLP1
  • MOAT-E
  • MRP6
  • MRP6_HUMAN
  • multidrug resistance-associated protein 6
  • multispecific organic anion transporter-E

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?

adenosine triphosphate ; anion ; arteries ; ATP ; breakdown ; calcification ; calcium ; cell ; elastic ; gene ; molecule ; mutation ; protein ; stomach

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.

 
Reviewed: January 2015
Published: September 1, 2015