Home > A. Molecular pathology > ABCs
ABCs
Monday 6 October 2003
In 2003, about 2000 different ABC proteins are known.
Classification
ABCCs
ABCAs
- ABCA4
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