Article
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Human mutation - 1 May 2010
Luoma Leiah M, Deeb Taha M M, Macintyre Georgina, Cox Diane W
Abstract excerpt
Wilson disease (WND) is an autosomal recessive disorder resulting from mutation of ATP7B. Transport of copper by ATP7B from the trans-Golgi of hepatocytes into apical membrane-trafficked vesicles for excretion in the bile is the major means of copper elimination from the body. Although copper is an essential nutrient, homeostasis must be carefully maintained. If homeostasis is disrupted, copper can accumulate...
Topics
- Adenosine Triphosphatases
- Cation Transport Proteins
- Computational Biology
- Copper
- Copper-Transporting ATPases
- DNA Mutational Analysis
- Genetic Variation
- Hepatolenticular Degeneration
- Humans
- Mutation, Missense