ATP7A

The ATP7A gene provides instructions to make a protein that is important for regulating copper levels within the body. This protein is found in most tissues, but it is absent from the liver. In the small intestines, the ATP7A protein helps control the absorption of copper from food. In other organs and tissues, the ATP7A protein has a dual role and shuttles between two locations within the cell. The protein normally resides in a cell structure called the Golgi apparatus, which modifies and transports newly produced enzymes and other proteins. Here, the ATP7A protein supplies copper to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system. If copper levels in the cell environment get too high, however, the ATP7A protein moves to the cell membrane and eliminates excess copper from the cell.

Menkes syndrome - caused by mutations in the ATP7A gene

Researchers have identified more than 160 ATP7A mutations that cause Menkes syndrome. Most of these mutations are predicted to produce a shortened ATP7A protein. The altered protein may impair the absorption of copper from food, fail to supply copper to certain enzymes, or get stuck in the plasma membrane, unable to shuttle back and forth from the Golgi.

As a result of the disrupted activity of the ATP7A protein, copper is poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestines and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system.

Xq13.2-q13.3

The ATP7A gene is located on the long (q) arm of chromosome X between positions 13.2 and 13.3.

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

You and your healthcare professional may find the following resources about ATP7A helpful.

• 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

cell membrane ; enzyme ; gene ; Golgi apparatus ; intestine ; mutation ; nervous system ; plasma membrane ; polypeptides ; protein

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