ATP7A

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 cutis laxa, and occipital horn syndrome. [provided by RefSeq, Oct 2011]

Description

ATPase, Cu++ transporting, alpha polypeptide

Protein family

Enzymes, Membrane proteins predicted by MDM, Transporters

Chromosome

X:q21.1 (77166194 - 77305892)

Ensembl ID

ENSG00000165240  (ver. 69.37)

Orthologs

Mouse Atp7a: ENSMUSG00000033792

Human splice variants
Mouse splice variants