ABCC6

ABCC6 is a gene that provides instructions for making a protein that is part of a family of proteins known as ATP-binding cassette (ABC) transporters. These proteins use energy derived from the binding and hydrolysis of adenosine triphosphate (ATP) to transport various molecules across cellular membranes. The ABCC6 protein is believed to play a critical role in the transport of certain minerals that are necessary for the normal function of the body's tissues and organs.

Function[edit | edit source]

The ABCC6 protein is primarily found in the liver and kidney, where it is thought to transport molecules from the inside of cells to the outside. Although the exact function of this protein is not well understood, it is believed to play a role in the transport of calcium and other minerals to different parts of the body.

Clinical significance[edit | edit source]

Mutations in the ABCC6 gene are associated with two rare inherited disorders: pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI). Both of these conditions involve problems with mineralization, a process by which minerals are deposited in developing tissues and organs.

PXE is characterized by the calcification and fragmentation of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue. This can lead to changes in the skin, eyes, and cardiovascular system. GACI is a severe disorder characterized by calcification of the arteries, which can lead to life-threatening complications in infancy.