ABCs
ATP-binding cassette transporters
In 2003, about 2000 different ABC proteins are known.
Classification
Function
ion channels
antigen presentation
formation and excretion of bile
trafficking and homeostasis of phospholipids and sterols
development
Pathology
ABCA1 : mutations in Tangier’s disease
ABCA4 (ABCR) : mutations in Stargardt’s disease
ABCC6 : mutations in pseudoxanthoma elasticum
ABCC7 (CFTR) : mutations in cystic fibrosis
ABCC8 (SUR1) : mutations in congenital hyperinsulinism
References
Uitto J. The gene family of ABC transporters—novel mutations, new phenotypes. Trends Mol Med. 2005 Aug;11(8):341-3. PMID: 15996518
