The gene family of ABC transporters – novel mutations, new phenotypes

Members of the ABC (ATP-binding cassette) superfamily of genes encode transmembrane proteins that are involved in the transport of a variety of substrates both in and out of the cells, in addition to across intracellular membranes. Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrated to underlie phenotypically different diseases affecting the skin (pseudoxanthoma elasticum and harlequin ichthyosis, respectively), attesting to the spectrum of ABC gene mutations in human diseases. These findings have a major impact on the molecular genetics of these devastating disorders in terms of DNA-based prenatal testing and pre-implantation genetic diagnosis.