ABCC6 : ATP binding cassette subfamily C member 6

Gene Focus: ABCC6 - Multidrug Resistance-Associated Protein 6

Description:

The ABCC6 gene encodes a protein called multidrug resistance-associated protein 6 (MRP6), found primarily in the liver and kidneys. It plays a crucial role in transporting molecules across cell membranes, facilitating the removal of toxins and unwanted substances from bodily fluids. However, the specific substances transported by MRP6 remain largely unknown.

Associated Diseases:

Mutations in the ABCC6 gene have been linked to a rare genetic condition called pseudoxanthoma elasticum (PXE). PXE is characterized by calcification of elastic fibers in the skin, eyes, and blood vessels, leading to a distinctive yellowed appearance, eye problems, and cardiovascular complications.

Did you Know ?

Studies suggest that approximately 1 in 50,000 individuals worldwide are affected by PXE, making it a relatively rare condition. However, it is important to note that not all cases of PXE are caused by mutations in the ABCC6 gene.