ABCA12
ABCA12
ABCA12 (pronounced as A-B-C-A-twelve), also known as ATP-binding cassette sub-family A member 12, is a protein that in humans is encoded by the ABCA12 gene.
Etymology
The term ABCA12 is derived from the abbreviation of ATP-binding cassette sub-family A member 12. The ATP-binding cassette (ABC) is a superfamily of proteins, and ABCA12 is a member of this family. The number 12 indicates that it is the twelfth member identified in sub-family A.
Function
ABCA12 is an important protein that plays a crucial role in the normal development of the skin. It is involved in the transport of lipids (fats) into cells that produce a protective substance called keratin, which is necessary for the formation of a protective barrier on the skin.
Related Terms
- ATP-binding cassette transporter: A member of a protein family that transports various molecules across the intra and extra cellular membranes.
- Keratin: A type of protein that makes up your hair, skin, and nails.
- Lipids: A group of naturally occurring molecules that include fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E, and K), monoglycerides, diglycerides, triglycerides, and phospholipids.
Diseases Associated
Mutations in the ABCA12 gene are associated with Harlequin-type ichthyosis, a severe skin disorder, and Lamellar ichthyosis, a skin disorder that is characterized by dry, scaly skin.
External links
- Medical encyclopedia article on ABCA12
- Wikipedia's article - ABCA12
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