NCBI Description of ATP2C1
|The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.|
Community Annotation of ATP2C1 Add / Edit ATP2C1: Annotations
No community annotations yet for ATP2C1.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.