May 08, 2018
prolyl 3-hydroxylase 1
The P3H1 gene codes for a protein involved in collagen biosynthesis, folding, and assembly (Vranka et al., 2004).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!