The genetics of ATP‐binding cassette transporters

M Dean - Methods in enzymology, 2005 - Elsevier
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 disorders. The proteins play
essential roles in the protection of organisms from toxic metabolites and compounds in the …