Wilson disease protein

Wilson disease protein

Wilson disease protein (also called ATP7B) is an ATPase that transports copper.

PBB_Summary
section_title =
summary_text = 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 2 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 disease (WD). [cite web | title = Entrez Gene: ATP7B ATPase, Cu++ transporting, beta polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=540| accessdate = ]

ee also

* Wilson disease

External links

*

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Harris ED |title=Cellular copper transport and metabolism. |journal=Annu. Rev. Nutr. |volume=20 |issue= |pages= 291–310 |year= 2000 |pmid= 10940336 |doi= 10.1146/annurev.nutr.20.1.291
*cite journal | author=Cox DW, Moore SD |title=Copper transporting P-type ATPases and human disease. |journal=J. Bioenerg. Biomembr. |volume=34 |issue= 5 |pages= 333–8 |year= 2003 |pmid= 12539960 |doi=
*cite journal | author=Lutsenko S, Efremov RG, Tsivkovskii R, Walker JM |title=Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation. |journal=J. Bioenerg. Biomembr. |volume=34 |issue= 5 |pages= 351–62 |year= 2003 |pmid= 12539962 |doi=
*cite journal | author=Chappuis P, Bost M, Misrahi M, "et al." |title= [Wilson disease: clinical and biological aspects] |journal=Ann. Biol. Clin. (Paris) |volume=63 |issue= 5 |pages= 457–66 |year= 2006 |pmid= 16230279 |doi=
*cite journal | author=La Fontaine S, Mercer JF |title=Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. |journal=Arch. Biochem. Biophys. |volume=463 |issue= 2 |pages= 149–67 |year= 2007 |pmid= 17531189 |doi= 10.1016/j.abb.2007.04.021
*cite journal | author=Lutsenko S, LeShane ES, Shinde U |title=Biochemical basis of regulation of human copper-transporting ATPases. |journal=Arch. Biochem. Biophys. |volume=463 |issue= 2 |pages= 134–48 |year= 2007 |pmid= 17562324 |doi= 10.1016/j.abb.2007.04.013

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