Article
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.
Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine - 1 Dec 2017
Ariöz Candan, Li Yaozong, Wittung-Stafshede Pernilla
Abstract excerpt
Wilson Disease (WD) is a hereditary genetic disorder, which coincides with a dysfunctional copper (Cu) metabolism caused by mutations in ATP7B, a membrane-bound P1B-type ATPase responsible for Cu export from hepatic cells. The N-terminal part (~ 600 residues) of the multi-domain 1400-residue ATP7B constitutes six metal binding domains (MBDs), each of which can bind a copper ion, interact with other ATP7B domains...
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