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. Author manuscript; available in PMC: 2018 Sep 1.
Published in final edited form as: Bone. 2017 Feb 15;102:40–49. doi: 10.1016/j.bone.2017.02.004

Figure 1.

Figure 1

Genes involved in the post-translational modification of type I collagen. The P3h1 complex serves to generate 3Hyp at P986 of the α(I) chain and the Lh2 complex lysyl hydroxylates telopeptide lysine residues. Defects in members of the P3h1 complex causes OI, whereas Lh2/Fkbp65 mutations cause Bruck syndrome in conjunction with OI. In addition to dominant mutations in Col1a1 or Col1a2, common causes of OI encompass altered collagen trafficking, cross-linking and extracellular matrix signaling.