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Copper transporting P-type ATPases and human disease.
J Bioenerg Biomembr. 2002 Oct; 34(5):333-8.JB

Abstract

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.

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Authors+Show Affiliations

Cox DW
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. diane.cox@ualberta.ca
Moore SD
No affiliation info available

MeSH

Adenosine TriphosphatasesCation Transport ProteinsCopperCopper Transport ProteinsCopper-Transporting ATPasesHepatolenticular DegenerationHumansMenkes Kinky Hair SyndromeMetal Metabolism, Inborn ErrorsMetallochaperonesMolecular ChaperonesMutation, MissenseRecombinant Fusion Proteins

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

12539960

Citation

Cox, Diane W., and Steven D P. Moore. "Copper Transporting P-type ATPases and Human Disease." Journal of Bioenergetics and Biomembranes, vol. 34, no. 5, 2002, pp. 333-8.
Cox DW, Moore SD. Copper transporting P-type ATPases and human disease. J Bioenerg Biomembr. 2002;34(5):333-8.
Cox, D. W., & Moore, S. D. (2002). Copper transporting P-type ATPases and human disease. Journal of Bioenergetics and Biomembranes, 34(5), 333-8.
Cox DW, Moore SD. Copper Transporting P-type ATPases and Human Disease. J Bioenerg Biomembr. 2002;34(5):333-8. PubMed PMID: 12539960.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Copper transporting P-type ATPases and human disease. AU - Cox,Diane W, AU - Moore,Steven D P, PY - 2003/1/24/pubmed PY - 2003/7/30/medline PY - 2003/1/24/entrez SP - 333 EP - 8 JF - Journal of bioenergetics and biomembranes JO - J Bioenerg Biomembr VL - 34 IS - 5 N2 - 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. SN - 0145-479X UR - https://www.unboundmedicine.com/medline/citation/12539960/Copper_transporting_P_type_ATPases_and_human_disease_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=12539960.ui DB - PRIME DP - Unbound Medicine ER -