Gene:
ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
Gene ID:
201401
Symbol:
ATP7B
Species:
1000
Description:
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a polypeptide that acts as a membrane copper-transport protein. Defects in this gene are the cause of Wilson disease (WD). 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. Alternatively spliced transcript variants encoding different isoforms have been identified.