Wilson disease protein (also called ATP7B, full name ATPase, Cu++ transporting, beta polypeptide) is an ATPase that transports copper.
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least two putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson's disease.
^Larin, D; Mekios C, Das K, Ross B, Yang A S, Gilliam T C (Oct. 1999). "Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p". J. Biol. Chem. (UNITED STATES) 274 (40): 28497–504. doi:10.1074/jbc.274.40.28497. ISSN0021-9258. PMID10497213.
^Lim, Chris M; Cater Michael A, Mercer Julian F B, La Fontaine Sharon (Sep. 2006). "Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases". Biochem. Biophys. Res. Commun. (United States) 348 (2): 428–36. doi:10.1016/j.bbrc.2006.07.067. ISSN0006-291X. PMID16884690.