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Gene : ATP7A Homo sapiens

Name  ? ATPase copper transporting alpha Cytological Location  Xq21.1
Brief Description  ATPase copper transporting alpha
Description  This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
  • synonyms:
  • MNK,
  • HGNC:869,
  • Menkes syndrome,
  • uc004ecx.6,
  • DSMAX,
  • ATPase, Cu++ transporting, alpha polypeptide,
  • MNK,
  • NM_000052,
  • L06133,
  • SMAX3,
  • OTTHUMG00000021885,
  • MK,
  • copper pump 1,
  • ATP7A,
  • copper-transporting ATPase 1
  • identifiers:
  • 538,
  • ENSG00000165240,
  • ATP7A

Genome feature

Region: gene ? Length: 139740  
Location: X:77910656-78050395 Cyto location: Xq21.1


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Proteins

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SNPs

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Disease

3 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results