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.

Summary from Reactome (R-HSA-5619084), read 2026-09-23.