
Wilson disease protein - Wikipedia
Wilson disease protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ATP7B gene. The ATP7B protein is located in the trans-Golgi network of the liver and brain and balances the copper level
ATP7B Gene - GeneCards | ATP7B Protein | ATP7B Antibody
2024年12月24日 · ATP7B (ATPase Copper Transporting Beta) is a Protein Coding gene. Diseases associated with ATP7B include Wilson Disease and Wolff Syndrome. Among its related pathways are Copper homeostasis and Ion channel transport.
ATP7B gene - MedlinePlus
The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2. This protein is part of the P-type ATPase family, a group of proteins that transport metals into and out of cells by using energy stored in the molecule adenosine triphosphate (ATP).
ATP7B ATPase copper transporting beta [ (human)] - National …
2025年2月8日 · The ATP7B gene codes the ATP7B protein, which is an acronym for: ATPase activity, 7 distinct domain, and B class for second P-type ATPase copper binding pump. Mutations in the alpha-1-antitrypsin and Wilson's genes may act as cofactors in …
A glimpse into the regulation of the Wilson disease protein, ATP7B ...
Wilson disease (WD), a Mendelian disorder of copper metabolism caused by mutations in the ATP7B gene, manifests a large spectrum of phenotypic variability. This phenomenon of extensive symptom variation is not frequently associated with a monogenic disorder.
Atp7b Gene: Functions, Mutations, and Associated Disorders
2023年12月20日 · The Atp7b gene is a gene that codes for a protein called copper-transporting ATPase 2 (ATP7B). This protein is responsible for the transport of copper ions across cell membranes. It is primarily found in the liver and plays a crucial role in copper metabolism.
ATP7B ATPase copper transporting beta [ Homo sapiens …
2025年2月9日 · Title: Integrative analysis of the cuproptosis-related gene ATP7B in the prognosis and immune infiltration of IDH1 wild-type glioma. AP-1gamma2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter.
In ATP7B, the N-terminal sixth metal-binding domain (MBD6) binds at the cytosolic copper entry site of the transmembrane domain (TMD), facilitating the delivery of copper from the MBD6 to the TMD. The sulfur-containing residues in the TMD of ATP7B mark the copper transport pathway.
The six metal binding domains in human copper transporter, ATP7B ...
The N-terminal part (~ 600 residues) of the multi-domain 1400-residue ATP7B constitutes six metal binding domains (MBDs), each of which can bind a copper ion, interact with other ATP7B domains as well as with different proteins.
ATP7A and ATP7B copper transporters have distinct functions in …
Two ATP-driven Cu transporters, ATP7A and ATP7B, play essential roles in balancing Cu levels in the brain. Inactivating mutations in either ATP7A or ATP7B are associated with severe neurologic disorders (Menkes disease and Wilson disease, respectively).