ATP2C1

ATP2C1 is a gene that provides instructions for making a protein that is found in many types of cells, including skin cells. This protein is involved in maintaining the balance of calcium and manganese ions within cells. The ATP2C1 gene is located on the short (p) arm of chromosome 3 at position 21.3.

Function

The ATP2C1 gene provides instructions for making a protein that is part of a family of proteins called P-type ATPases. These proteins use energy stored in molecules of adenosine triphosphate (ATP) to transport certain ions across cell membranes. The ATP2C1 protein is found in a cell structure called the Golgi apparatus, which modifies and transports proteins and lipids (fats) to other parts of the cell. The ATP2C1 protein transports calcium and manganese ions out of the Golgi apparatus.

Clinical significance

Mutations in the ATP2C1 gene cause Hailey-Hailey disease, a condition that affects the skin. This condition is characterized by outbreaks of rashes and blisters in areas of the skin that rub together, such as the neck, armpits, and groin. The rashes and blisters can be painful and itchy, and they often become infected. The skin abnormalities tend to worsen with heat, sweat, and friction.

See also

• ATPase
• Hailey-Hailey disease
• Golgi apparatus
• Adenosine triphosphate

References

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External links

• ATP2C1 at Genetics Home Reference
• ATP2C1 at National Center for Biotechnology Information