ABC transporter disorders

Stable Identifier
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
21740521 Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases

Chen, ZS, Tiwari, AK

FEBS J. 2011
23415156 Role of ABC transporters in lipid transport and human disease

Edwards, PA, de Aguiar Vallim, TQ, Tarling, EJ

Trends Endocrinol. Metab. 2013
21554546 ABCG transporters and disease

Köttgen, M, Köttgen, A, Woodward, OM

FEBS J. 2011
16399363 The genetics of ATP-binding cassette transporters

Dean, M

Meth. Enzymol. 2005
21488864 Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance

Kemp, S, Wanders, RJA, Theodoulou, FL

Br. J. Pharmacol. 2011
21389634 ABC proteins protect the human body and maintain optimal health

Ueda, K

Biosci. Biotechnol. Biochem. 2011
Name Identifier Synonyms
disease DOID:4
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