ATP7B Recombinant Monoclonal Antibody

Uniprot Id

P35670

Target Species

Human

Target Name

ATP7B

Target Full Name

Copper-transporting ATPase 2

Target Function

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.

Target Involvement

Wilson disease (WD)

Target Subcellular Location

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Late endosome.; [Isoform 1]: Golgi apparatus membrane; Multi-pass membrane protein.; [Isoform 2]: Cytoplasm.; [WND/140 kDa]: Mitochondrion.

Target Protein Families

Cation transport ATPase (P-type) (TC 3.A.3) family, Type IB subfamily

Target Tissue Specificity

Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.

Target Research Area

Metabolism

Target Synonyms

ATP7B; ATP7B_HUMAN; ATPase, Cu(2+) transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide; Copper pump 2; Copper transporting ATPase 2; PWD; Toxic milk; tx; WC1; WD; Wilson disease associated protein; Wilson disease-associated protein; WND; WND/140 kDa

Target 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 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.