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Reviewed June 2009
What is the official name of the ATP7A gene?
The official name of this gene is “ATPase, Cu++ transporting, alpha polypeptide.”
ATP7A is the gene's official symbol. The ATP7A 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 ATP7A gene?
The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The ATP7A protein is found throughout the body, except in liver cells. In the small intestine, this protein helps control the absorption of copper from food. In other cells, the ATP7A protein has a dual role and shuttles between two cellular locations. The protein normally resides in a cell structure called the Golgi apparatus, which modifies newly produced proteins, including enzymes. In the Golgi apparatus, 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 are elevated, however, the ATP7A protein moves to the cell membrane and eliminates excess copper from the cell.
Does the ATP7A gene share characteristics with other genes?
The ATP7A gene belongs to a family of genes called ATP (ATPase superfamily).
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 ATP7A gene related to health conditions?
Where is the ATP7A gene located?
Cytogenetic Location: Xq21.1
Molecular Location on the X chromosome: base pairs 77,166,193 to 77,305,891
The ATP7A gene is located on the long (q) arm of the X chromosome at position 21.1.
More precisely, the ATP7A gene is located from base pair 77,166,193 to base pair 77,305,891 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ATP7A?
You and your healthcare professional may find the following resources about ATP7A 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 ATP7A 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 ATP7A?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 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.