Friday 25 February 2005
ATP7B gene encodes a polypeptide that acts as a membrane copper-transport protein. ATP7B protein is required for incorporation of copper into ceruloplasmin in the liver and for biliary excretion of copper. ATP7B may also be involved in the transport of copper to a vesicular compartment. Copper from these vesicles may be delivered to lysosomes.
germline mutation of ATP7B in Wilson disease (MIM.277900)
copper transporters (ATP7s)
Bingham MJ, Ong TJ, Summer KH, Middleton RB, McArdle HJ. Physiologic function of the Wilson disease gene product, ATP7B. Am J Clin Nutr. 1998 May;67(5 Suppl):982S-987S. PMID: 9587140