ABCC6

The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.

ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multidrug resistance.

Pathology
Mutations in this protein cause pseudoxanthoma elasticum (PXE). The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.