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 functions as a monomer, exporting 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 (WD).
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Protein Aliases: ATP7B; ATPase Cu(2+) transporting beta polypeptide; ATPase Cu++ transporting beta polypeptide; ATPase, Cu(2+)- transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide (same as Wilson disease); Copper pump 2; Copper transporting ATPase 2; Copper-transporting ATPase 2; PINA gene, promoter; pineal night-specific ATPase; PWD; Toxic milk; tx; WC1; WD; Wilson disease associated protein; Wilson disease-associated protein; Wilson disease-associated protein homolog; Wilson protein; WND; WND/140 kDa
Gene Aliases: Atp7a; ATP7B; Hts; PINA; PWD; tx; WC1; WD; WND