Why do defects in ABC transporters cause such serious health problems?
ABC ( ATP- binding cassette)superfamily of active transporters involves a large number of functionally diverse transmembrane proteins . They transport a variety of substrates including amino acids , lipids , peptides, etc. Defect in ABC transporters cause serious health problems because these defects lead to several kinds of genetic disorders like cystic fibrosis , Tangier disease etc. Tangier disease due to absence or severe deficiency in high - density lipoproteins in the plasma .
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