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Atp7b

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Atp7b

ATPase, Cu++ transporting, beta polypeptide
PDB rendering based on 2arf.
Available structures
PDB Ortholog search: RCSB
Identifiers
3.6.3.4
RNA expression pattern

Wilson disease protein (also called ATP7B, full name ATPase, Cu++ transporting, beta polypeptide) is an ATPase that transports copper.

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least two putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson's disease.[1]

Interactions

Wilson disease protein has been shown to interact with ATOX1[2][3] and GLRX.[4]

See also

External links

  • GeneReviews/NIH/NCBI/UW entry on Wilson Disease or Hepatolenticular Degeneration
  • Medical Subject Headings (MeSH)

References

Further reading

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