ATP7A

ATP7A is a gene that provides instructions for producing a protein that is essential for normal function of the body's cells. This protein, known as the ATP7A protein, is found in the cell membrane of cells throughout the body. The ATP7A protein uses energy stored in molecules called adenosine triphosphate (ATP) to transport copper into and out of cells. Copper is necessary for many cellular activities, such as energy production, iron metabolism, the synthesis of connective tissue, and the creation of pigments for hair and skin.

Function

The ATP7A protein is a member of a protein family known as P-type ATPase. These proteins use ATP to transport various substances across cell membranes. The ATP7A protein transports copper into and out of cells, which is necessary for many cellular activities.

Clinical significance

Mutations in the ATP7A gene cause Menkes disease, a disorder that affects copper levels in the body. This disease is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Mutations in the ATP7A gene also cause a milder form of the disease known as occipital horn syndrome.

See also

• ATPase
• Menkes disease
• Occipital horn syndrome

References

ATP7A Resources
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