ATP7B
MIM.606882 13q14.3-q21.1
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The ATP7B gene encodes the Wilson disease p-type ATPase.
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.
Pathology
germline mutation of ATP7B in Wilson disease (MIM.277900)
See also
copper transporters (ATP7s)
- ATP7A
- ATP7B
References
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#