DISEASES

Disease-gene associations mined from literature

Literature associating P3H1 and osteogenesis imperfecta

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 ...

Linkouts:  STRING  Pharos  UniProt