Wilson disease protein

  • OMIM: 606 882
  • UniProt: P35670
  • MGI: 103297

Wilson protein, also known as ATP7B, is an ATPase transports the copper.

The Wilson protein is a member of the P- type ATPase cation transporter family. The corresponding Wilson gene coding for a membrane protein with various transmembrane domains, an ATPase consensus sequence of a hinge domain, a portion of which can be phosphorylated and at least two copper - binding sites. The protein copper transported from cells similar to the transport of the copper from the liver cells into the bile. MRNA variants are described for the Wilson gene, which are caused by alternative splicing and encode different isoforms of the Wilson protein which are located at different points in the cell. Mutations in the Wilson gene are associated with Wilson's disease.

Protein isoform Human Genome Organisation Mouse Genome Informatics Hydrolase Hydrolysis Organism Entrez Ensembl National Center for Biotechnology Information
86140
de