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Disorders of transmembrane transporters
Stable Identifier
R-HSA-5619115
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
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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. Disorders associated with ABC transporters and SLC transporters are annotated here (Dean 2005).
Literature References
PubMed ID
Title
Journal
Year
16399363
The genetics of ATP-binding cassette transporters
Dean, M
Meth. Enzymol.
2005
Participants
Events
ABC transporter disorders
(Homo sapiens)
SLC transporter disorders
(Homo sapiens)
Participates
as an event of
Disease (Homo sapiens)
Disease
Name
Identifier
Synonyms
disease
DOID:4
Authored
Jassal, B (2014-08-22)
Reviewed
Moitra, K (2015-04-28)
Created
Jassal, B (2014-08-22)
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