Disorders of transmembrane transporters

Stable Identifier
Homo sapiens
Locations in the PathwayBrowser

Proteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the movement of substrates across the membrane against their electrochemical gradient. Channels in their open state can transfer substrates (ions or water) down their electrochemical gradient at an extremely high efficiency (up to 108 s-1). Transporters facilitate the movement of a specific substrate either against or with their concentration gradient at a lower speed (about 102 -104 s-1); as generally believed, conformational change of the transporter protein is involved in the transfer process. Diseases caused by defects in these transporter proteins are detailed in this section. Currently, disorders associated with ABC transporters are annotated here (Dean 2005).

Literature References
PubMed ID Title Journal Year
16399363 The genetics of ATP-binding cassette transporters Meth. Enzymol. 2005
Participant Of
Name Identifier Synonyms
disease 4