Procollagen Lysine-2-Oxoglutarate-5-Dioxygenase 2 (PLOD2)

TLH; LH2; Telopeptide Lysyl Hydroxylase; Lysyl hydroxylase 2

SPN	S528
HGNC	9082
MGI	1347007
PubMed	12881513
RGD	3353
UniProt	O00469

PLOD2 is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. The similarity is even higher in the C-terminal region of the polypeptides. The PLOD2 gene contains 9 cysteines conserved in PLOD, in addition to conserved histidines in the putative active site.

Reference

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"Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum."
Hum. Mutat. 33:1444-1449(2012) [PubMed] [Europe PMC] [Abstract]