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.
Other Names
ATP7A_HUMAN; ATPase, Cu++ transporting, alpha polypeptide; ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome); ATPP1; copper pump 1; MC1; MK; MNK; OHS
Related Genetics Topics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- Menkes syndrome — MedlinePlus Genetics
- Cutis laxa — MedlinePlus Genetics
Identifiers
- NCBI Gene: 538
- OMIM: 300011
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
