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) and enzymes in cells that make up the outermost layer of skin (the epidermis). This transport of molecules is needed to maintain the layers of lipids within the epidermis that are necessary to prevent water loss (dehydration) and for normal development of the skin.
Other Names
ABCAC_HUMAN; 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; ICR2B
Related Genetics Topics
- Harlequin ichthyosis — MedlinePlus Genetics
- Lamellar ichthyosis — MedlinePlus Genetics
- Nonbullous congenital ichthyosiform erythroderma — MedlinePlus Genetics
Identifiers
- NCBI Gene: 26154
- OMIM: 607800
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
