Article
The genetics of ATP-binding cassette transporters.
Methods in enzymology - 1 Jan 2005
Dean Michael
Abstract excerpt
The ATP-binding cassette (ABC) superfamily consists of membrane proteins that transport a wide variety of substrates across membranes. Mutations in ABC transporters cause or contribute to a number of different Mendelian disorders, including adrenoleukodystrophy, cystic fibrosis, retinal degeneration, cholesterol, and bile transport defects. In addition, the genes are involved in an increasing number of complex...
Topics
- ATP-Binding Cassette Transporters
- Cholesterol
- Genetic Diseases, Inborn
- Humans
- Immune System Diseases
- Mutation