ABCC6
ABCC6
ABCC6 (pronounced as A-B-C-C-six), also known as ATP-binding cassette sub-family C member 6, is a protein that in humans is encoded by the ABCC6 gene.
Etymology
The term ABCC6 is derived from the abbreviation of ATP-binding cassette sub-family C member 6. The ATP-binding cassette (ABC) is a superfamily of proteins, and the ABCC6 is a member of this family. The number 6 denotes its position in the sub-family C.
Function
The ABCC6 protein functions as a Multidrug resistance protein which is involved in the transport of certain molecules across the inner membranes of Mitochondria and other intracellular membranes. Mutations in the ABCC6 gene are associated with Pseudoxanthoma elasticum, a rare genetic disorder affecting the skin, eyes, and cardiovascular system.
Related Terms
- ATP-binding cassette transporter: A type of transmembrane protein that uses the energy of adenosine triphosphate (ATP) to transport various molecules across intra and extracellular membranes.
- Multidrug resistance protein: A type of protein that is part of the cell's defense system. It helps to pump foreign substances out of cells.
- Pseudoxanthoma elasticum: A genetic disorder that causes fragmentation and mineralization of elastic fibers in some tissues. The ABCC6 gene mutation is a known cause of this disorder.
- Mitochondria: An organelle found in large numbers in most cells, in which the biochemical processes of respiration and energy production occur.
External links
- Medical encyclopedia article on ABCC6
- Wikipedia's article - ABCC6
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