Copper transporting P-type ATPases and human disease.
Copper transporting P-type ATPases, designated ATP7A and ATP7B, play an essential role in mammalian copper balance. Impaired intestinal transport of copper, resulting from mutations in the ATP7A gene, lead to Menkes disease in humans. Defects in a similar gene, the copper transporting ATPase ATP7B, result in Wilson disease. This ATP7B transporter has two functions: transport of copper into the plasma protein ceruloplasmin, and elimination of copper through the bile. Variants of ATP7B can be functionally assayed to identify defects in each of these functions. Tissue expression studies of the copper ATPases and their copper chaperone ATOX1 indicate that there is not complete overlap in expression. Other chaperones may be important for the transport of copper into ATP7A and ATP7B.
Cox
Diane W
DW
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. diane.cox@ualberta.ca
Moore
Steven D P
SD
D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D003300:Copper / Q000378:metabolism*; D000079922:Copper Transport Proteins; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology / Q000235:genetics; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics*; D056511:Metallochaperones; D018832:Molecular Chaperones / Q000378:metabolism; D020125:Mutation, Missense; D011993:Recombinant Fusion Proteins
C474500:ATOX1 protein, human; D027682:Cation Transport Proteins; D000079922:Copper Transport Proteins; D056511:Metallochaperones; D018832:Molecular Chaperones; D011993:Recombinant Fusion Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases