The role of abc-transporters in human diseases

The ATP-binding cassette (ABC) superfamily is one of the largest gene families and encodes a functionally diverse group of proteins principally involved in the transport of molecules across membranes. These include a number of genes involved in diseases like cystic fibrosis (CFTR) or adrenoleukodistrophy gene (ALD), Stargardt disease gene, or other important biological processes like HLA peptide transporter (PGP1, TAP). The objective of proposed project is to identify and characterize other MDR and/or CFTR related genes. Another objective is to find and characterize additional mutations and polymorphisms in the CFTR and MDR genes, and to correlate these changes to the functional domains of proteins and the clinical characteristics of the patients (disease phenotype). Understanding the mechanisms of the action of the CFTR and MDR gene product should also help our understanding of the functionally important regions of other members of ABC family.