P4HA2
Function
Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the P4HA family.
Tissue Specificity
Expressed in the heart, placenta, lung and pancreas.
Cellular localization
- Endoplasmic reticulum lumen
Alternative names
UNQ290/PRO330, P4HA2, Prolyl 4-hydroxylase subunit alpha-2, 4-PH alpha-2