背景
This gene is a member of the P-type cation transport ATPase family and encodes a protein
with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain,
a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a
monomer, and functions as a copper-transporting ATPase which exports copper out of the
cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice
variants, encoding different isoforms with distinct cellular localizations, have been
characterized. Mutations in this gene have been associated with Wilson disease which is
characterized by copper accumulation.
