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ATP7B

MIM.606882 13q14.3-q21.1

Friday 25 February 2005

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#

Portfolio

  • Pathways of copper metabolism in the hepatocyte