Atp7a gene

The ATP7A gene encodes a protein that is ubiquitously present in the body (except for liver cells) and is important for regulating copper levels in the body. Copper is necessary for many cellular functions (Sudhahar V et al. 2019), but is toxic when present in excessive amounts.

In the small intestine, this protein (an ATPase) helps to control the uptake of copper from food. In other cells, the ATP7A protein plays a dual role. Normally, the protein is located in the Golgi apparatus. There the ATP7A protein supplies copper to certain enzymes that are crucial for the structure and function of bones, skin, hair, blood vessels and the nervous system.

However, when the copper levels in the cell environment are elevated, the ATP7A protein moves to the cell membrane and removes excess copper from the cell.

Mutations (>50 mutations are now known Fujisawa C et al. 2019) in the ATP7A gene are associated with:

• the Menke syndrome and its negative variant
• associated with occipital horn syndrome.
• Furthermore, X-linked distal spinal muscular atrophy (OMIM: 300489) is associated with mutations in this gene. This disease is a neuromuscular disorder caused by selective degeneration of motor neurons in the anterior horn of the spinal cord without sensory deficit in the posterior horn.

1. Canalichio KL et al (2020) Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.Urology 136:238-240.
2. Fujisawa C et al (2019) ATP7A mutations in 66 Japanese patients with Menkes disease and carrierdetection: A gene analysis. Pediatr Int 61:345-350.
3. Sudhahar V et al (2019) Copper Transporter ATP7A (Copper-Transporting P-Type ATPase/Menkes ATPase) Limits Vascular Inflammation and Aortic Aneurysm Development: Role of MicroRNA-125b. Arterioscler Thromb Vasc Biol 39:2320-2337.