Literature associating P3H1 and Boomerang dysplasia
P3H1 [ENSP00000236040]
Prolyl 3-hydroxylase 1; Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.
Synonyms: P3H1, P3H1p, hP3H1, E2QRI1, H7C2W6 ...