Copper transporting P-type ATPases and human disease.

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.

journal_name

J Bioenerg Biomembr

authors

Cox DW,Moore SD

doi

10.1023/a:1021293818125

keywords:

subject

Has Abstract

pub_date

2002-10-01 00:00:00

pages

333-8

issue

5

eissn

0145-479X

issn

1573-6881

journal_volume

34

pub_type

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