Description
ATP7A (ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)) is a human gene that provides instructions to make a protein that is important for regulating copper levels in the body. This protein is found in most tissues, but it is absent from the liver. In the small intestine, 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 are elevated, however, the ATP7A protein moves to the cell membrane and eliminates excess copper from the cell. The ATP7A gene is located on the long (q) arm of the X chromosome between positions 13.2 and 13.3, from base pair 76,972,353 to base pair 77,112,036