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ATP7B ATPase copper transporting beta

Gene ID: 540, updated on 24-Mar-2023
Gene type: protein coding
Also known as: WD; PWD; WC1; WND


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. [provided by RefSeq, Dec 2019]

Genomic context

Chromosome: 13; NC_000013.11 (51932669..52012132, complement)
Total number of exons:


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