P4HA2

P4HA2 is 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.

Full Name

Prolyl 4-Hydroxylase Subunit Alpha 2

Function

Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

Biological Process

Peptidyl-proline hydroxylation to 4-hydroxy-L-prolineManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Endoplasmic reticulum lumen

Involvement in disease

Myopia 25, autosomal dominant (MYP25):
A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.