DISEASES

Disease-gene associations mined from literature

Literature associating PLOD1 and collagen disease

PLOD1 [ENSP00000196061]

Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). 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 (Probable).

Synonyms:  PLOD1,  PLOD1p,  hPLOD1,  A0A024R4H0,  PLOD1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM