Recombinant Human ATP7b protein (ab152216)

Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.

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.

Defects in ATP7B are the cause of Wilson disease (WD) [MIM:277900]. WD is an autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.

Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
Contains 6 HMA domains.

Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form.

Cytoplasm; Mitochondrion and Golgi apparatus > trans-Golgi network membrane. Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels.