Lysyl hydroxylase

[1][2] Lysyl hydroxylases require iron and vitamin C as cofactors for their oxidation activity.

It takes place (as a post-translational modification) following collagen synthesis in the cisternae (lumen) of the rough endoplasmic reticulum (ER).

From PLOD2 two splice variant can be expressed (LH2a and LH2b), where LH2b differs from LH2a by incorporating the small exon 13A.

Mutations in the PLOD1 gene have been linked to kyphoscoliotic Ehlers–Danlos syndrome (kEDS, in the past EDS VI).

[3] Mutations in the PLOD2 gene have been linked to Bruck syndrome in humans.