DISEASES

Disease-gene associations mined from literature

Literature associating ATP7A and MEDNIK syndrome

ATP7A [ENSP00000345728]

ATPase, Cu++ transporting, alpha polypeptide; May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells; ATPase copper transporting

Synonyms:  ATP7A,  ATP7Ap,  hATP7A,  B4DRW0,  Q04656 ...

Linkouts:  STRING  Pharos  UniProt  OMIM