ab172730 - Rabbit monoclonal IgG, is suitable for use as an isotype control with this antibody.
1/100 - 1/250.
应用说明Is unsuitable for IHC-P or IP.
功能Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.
组织特异性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.
疾病相关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.
序列相似性Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. Contains 6 HMA domains.
翻译后修饰Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form.
细胞定位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.