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atp7b

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Official Full Name
ATPase, Cu++ transporting, beta polypeptide
Background
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).
Synonyms
ATP7B; ATPase, Cu++ transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide (Wilson disease) , WND; copper-transporting ATPase 2; Wilson disease; copper pump 2; Wilson disease-associated protein; ATPase, Cu(2+)- transporting, beta poly; ATPase, Cu(2+)- transporting, beta polypeptide; WD; PWD; WC1; WND