ABCC6

The ABCC6 gene belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes. The ABCC6 protein is found primarily in the liver and kidneys, with much smaller amounts in other tissues such as the skin, blood vessels, and the light-sensitive layer (retina) at the back of the eye. Little is known, however, about the particular molecules transported by the ABCC6 protein. These unidentified molecules probably play an indirect role in the cellular activities of connective tissue, the material that supports and holds together different structures in the body.

pseudoxanthoma elasticum - caused by mutations in the ABCC6 gene

More than 50 ABCC6 mutations that cause pseudoxanthoma elasticum have been identified. These mutations lead to an absent or nonfunctional protein. The most common mutation, found in about 18 percent of people with pseudoxanthoma elasticum, introduces a stop signal that halts ABCC6 protein production prematurely. (This mutation is referred to as Arg1141Ter or R1141X.)

It remains unclear how ABCC6 mutations lead to the signs and symptoms of pseudoxanthoma elasticum. Within the liver and kidney, absent or nonfunctional ABCC6 protein probably disrupts the transport of particular substances into the blood for distribution to other cells in the body. Lack of these substances could, in turn, disturb normal cell activities, leading to the features of pseudoxanthoma elasticum.

16p13.1

The ABCC6 gene is located on the short (p) arm of chromosome 16 at position 13.1.

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

You and your healthcare professional may find the following resources about ABCC6 helpful.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals

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

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (3 links)

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How does a gene make a protein?
• How can gene mutations cause disorders?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

anion ; ATP ; cell membrane ; connective tissue ; gene ; molecule ; mutation ; protein ; pseudoxanthoma elasticum ; retina ; sign ; symptom

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