Wilson disease protein
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Wilson disease protein (also called ATP7B) 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 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).[1]
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References
Further reading
- Harris ED (2000). "Cellular copper transport and metabolism.". Annu. Rev. Nutr. 20: 291-310. doi:10.1146/annurev.nutr.20.1.291. PMID 10940336.
- Cox DW, Moore SD (2003). "Copper transporting P-type ATPases and human disease.". J. Bioenerg. Biomembr. 34 (5): 333-8. PMID 12539960.
- Lutsenko S, Efremov RG, Tsivkovskii R, Walker JM (2003). "Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation.". J. Bioenerg. Biomembr. 34 (5): 351-62. PMID 12539962.
- Chappuis P, Bost M, Misrahi M, et al. (2006). "[Wilson disease: clinical and biological aspects]". Ann. Biol. Clin. (Paris) 63 (5): 457-66. PMID 16230279.
- La Fontaine S, Mercer JF (2007). "Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.". Arch. Biochem. Biophys. 463 (2): 149-67. doi:10.1016/j.abb.2007.04.021. PMID 17531189.
- Lutsenko S, LeShane ES, Shinde U (2007). "Biochemical basis of regulation of human copper-transporting ATPases.". Arch. Biochem. Biophys. 463 (2): 134-48. doi:10.1016/j.abb.2007.04.013. PMID 17562324.
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Acid anhydride hydrolases: ATPases (EC 3.6.3-3.6.4) | |
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| 3.6.3 | Cu++ (Menkes, Wilson) - Ca+ (SERCA, Plasma membrane) - Na+/K+ - H+/K+ - ATP synthase - H+ (F-type) - H+ (V-type) |
| 3.6.4 | Dynein - Kinesin - Myosin |
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
