DISEASES

Disease-gene associations mined from literature

Literature associating ATP7A and autosomal recessive cutis laxa type II classic type

ATP7A [ENSP00000345728]

Copper-transporting ATPase 1; 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; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.

Synonyms:  ATP7A,  ATP7Ap,  hATP7A,  A0A2R8YD60,  Q04656 ...

Linkouts:  STRING  Pharos  UniProt  OMIM