Article
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
Metallomics : integrated biometal science - 1 Jul 2012
Schushan Maya, Bhattacharjee Ashima, Ben-Tal Nir, Lutsenko Svetlana
Abstract excerpt
The copper-transporting ATPase ATP7B has an essential role in human physiology, particularly for the liver and brain function. Inactivation of ATP7B is associated with a severe hepato-neurologic disorder, Wilson disease (WD). Hundreds of WD related mutations have been identified in ATP7B to date. The low frequency and the compound-heterozygous nature of causative mutations complicate the analysis of individual...
Topics
- Adenosine Triphosphatases
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Binding Sites
- Biological Transport
- Cation Transport Proteins
- Cell Membrane
- Conserved Sequence
- Copper