NCBI Description of P4HA2
|This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described.|
Community Annotation of P4HA2 Add / Edit P4HA2: Annotations
No community annotations yet for P4HA2.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.