Thelansis

  The ATP-binding cassette (ABC) transporters represent an extensive family of membrane efflux transporters comprising 48 distinct members. These transporters exhibit diverse substrate specificities, including lipids, peptides, polysaccharides, organic molecules, and ions. Phylogenetic analysis reveals that ABCC6 shares the highest sequence homology with ABCC1 and ABCC2, which are recognized as multidrug resistance transporters and are known to transport a variety of substrates relevant to clinically significant pharmaceutical agents. The endogenous substrate for ABCC6 remains unidentified. Mutations in ABCC6 are the genetic basis for the rare disorder pseudoxanthoma elasticum (PXE). PXE is an autosomal recessive condition characterized by ectopic mineralization of the skin, retina, and arteries, leading to skin papules, blindness, and arterial sclerosis. Histologically, PXE is defined by the calcification of elastic fibers. Infants with ABCC6 deficiency may present with Generali...