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Gene : ATP7B Homo sapiens

Name  ? ATPase copper transporting beta Cytological Location  13q14.3
Brief Description  ATPase copper transporting beta
Description  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 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports 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 disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
  • synonyms:
  • WND,
  • HGNC:870,
  • Wilson disease,
  • copper pump 2,
  • ATPase, Cu++ transporting, beta polypeptide (Wilson disease),
  • WD,
  • NM_000053,
  • copper-transporting ATPase 2,
  • OTTHUMG00000017406,
  • ATP7B,
  • U11700,
  • uc001vfw.4,
  • WND,
  • PWD,
  • ATPase, Cu++ transporting, beta polypeptide,
  • WC1
  • identifiers:
  • 540,
  • ENSG00000123191,
  • ATP7B

Genome feature

Region: gene ? Length: 79462  
Location: 13:51932669-52012130 reverse strand Cyto location: 13q14.3


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results