The ABC gene family code for transporter proteins pumping a variety of compounds across the membranes of cells and tissues. Overexpression of ABC transporters is an important cause of multidrug resistance to chemotherapy agents. We previously demonstrated that the ABCA3 gene is mutated in children with neonatal respiratory failure. These patients have defects in the production of lung surfactant, a lipid rich secretion produced by alveolal type II cells. Recent data shows that the surfactant in patients is deficient in choline based lipids. To understand the function of the ABCC6 gene causing pseudoxanthoma elasticum we have characterized the zebrafish gene and initiated a metabolomics study. ABCG2 is an important drug resistance gene and we have screened for identified 135 new inhibitors. ABCG2 is an important marker and resistance factor in cancer stem cells. Several of these compounds can be shown to inhibit substrate binding and/or ATPase activity of the protein. The complete complement of ABC genes has been characterized in the sea urchin, a major model organism for development and cell biology. We find that the sea urchin has a dramatically expanded complement of drug transporter genes as well as orthologs of many human disease genes.
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