ATP binding cassette subfamily A member 12
The ABCA12 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. ABC transporter proteins carry many types of molecules across cell membranes. In particular, the ABCA12 protein plays a major role in transporting fats (lipids) in cells that make up the outermost layer of skin (the epidermis). This lipid transport appears to be essential for normal development of the skin. The ABCA12 protein is also found in several other tissues, including the testes, placenta, lung, stomach, and fetal brain and liver.
Several mutations in the ABCA12 gene have been identified in people with harlequin ichthyosis. Most of these mutations probably lead to an absence of ABCA12 protein or the production of an extremely small version of the protein that cannot transport lipids properly. A lack of lipid transport causes numerous problems with the development of the epidermis before and after birth. Specifically, it prevents the skin from forming an effective barrier against fluid loss (dehydration) and infections, and leads to the formation of hard, thick scales characteristic of harlequin ichthyosis.
Genetics Home Reference provides information about lamellar ichthyosis.
- ATP-binding cassette 12
- ATP-binding cassette transporter 12
- ATP-binding cassette, sub-family A (ABC1), member 12
- ATP-binding cassette, sub-family A, member 12