ABCC6

The ABCC6 gene, also known as ABC transporter C6, provides instructions for making a protein that is part of the ATP-binding cassette (ABC) transporter superfamily. These transporters are found in cell membranes and are responsible for moving various molecules, such as nutrients, drugs, and waste products, across the cell membrane. The ABCC6 protein is believed to be involved in the transport of substances out of cells, particularly in the liver and kidneys. Its precise function is still being researched, but it is thought to play a role in cellular detoxification and the regulation of mineral metabolism.

Mutations in the ABCC6 gene have been linked to certain diseases. The most well-known condition associated with ABCC6 mutations is pseudoxanthoma elasticum (PXE). PXE is a rare genetic disorder that affects the elastic tissue in the body, leading to characteristic skin changes, eye problems, and cardiovascular issues. Research suggests that the altered function of the ABCC6 protein in PXE may lead to the abnormal accumulation of certain substances in tissues, contributing to the disease's symptoms. Other conditions, like generalized arterial calcification of infancy (GACI), have also been associated with ABCC6 gene variations. Understanding the role of ABCC6 is crucial for developing potential therapeutic strategies for these disorders.