Disease-gene associations mined from literature

Literature associating ATP7B and X-linked distal spinal muscular atrophy 3

ATP7B [ENSP00000242839]

ATPase, Cu++ transporting, beta polypeptide; Copper ion transmembrane transporter involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile; ATPase copper transporting

Synonyms:  ATP7B,  ATP7Bp,  hATP7B,  A0A024RDX3,  A6YQZ1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM