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ABC transporter disorders

The ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates against a concentration gradient across membrane bilayers. Substrates include amino acids, lipids, inorganic ions, peptides, saccharides, peptides for antigen presentation, metals, drugs, and proteins. Of the 48 known ABC transporters in humans, 15 are associated with a defined human disease (Tarling et al. 2013, Woodward et al. 2011, Dean 2005, Kemp et al. 2011, Ueda 2011, Chen & Tiwari 2011).

from REACTOME source record: R-HSA-5619084
Type: pathway
Taxonomic scope
organism-specific biosystem
Homo sapiens

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