ATP7B, Official Symbol ATP7Bprovided by HGNC Official Full Name ATPase copper transporting betaprovided by HGNC Primary source HGNC:HGNC:870 See related Ensembl:ENSG00000123191 MIM:606882; AllianceGenome:HGNC:870 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WD; PWD; WC1; WND Summary 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] Expression Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues See more Orthologs mouse all