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#