DISEASES

Disease-gene associations mined from literature

Literature associating PLOD2 and osteogenesis imperfecta

PLOD2 [ENSP00000282903]

Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.

Synonyms:  PLOD2,  PLOD2p,  hPLOD2,  B3KWS3,  C9JXZ0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM