Aliases for ATP7B Gene
External Ids for ATP7B Gene
Previous HGNC Symbols for ATP7B Gene
Previous GeneCards Identifiers for ATP7B Gene
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]
GeneCards Summary for ATP7B Gene
ATP7B (ATPase Copper Transporting Beta) is a Protein Coding gene. Diseases associated with ATP7B include Wilson Disease and Menkes Disease. Among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP7A.
UniProtKB/Swiss-Prot Summary for ATP7B Gene
Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.