Recombinant Human Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (PLOD2)

Uniprot Id

O00469

Target Species

Human

Target Name

PLOD2

Target Full Name

Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

Target Function

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.

Target Involvement

Bruck syndrome 2 (BRKS2)

Target Subcellular Location

Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.

Target Tissue Specificity

Highly expressed in pancreas and muscle. Isoform 1 and isoform 2 are expressed in the majority of the examined cell types. Isoform 2 is specifically expressed in skin, lung, dura and aorta.

Target Research Area

Cancer

Target Synonyms

2-oxoglutarate 5-dioxygenase 2; LH2; Lysine hydroxylase 2; Lysyl hydroxylase 2; OTTHUMP00000215204; OTTHUMP00000215205; OTTHUMP00000215206; PLOD 2; Plod2; PLOD2_HUMAN; Procollagen lysine 2 oxoglutarate 5 dioxygenase 2; Procollagen lysine; 2 oxoglutarate 5 dioxygenase (lysine hydroxylase) 2; Procollagen-lysine; Telopeptide lysyl hydroxylase; TLH

Target Background

The protein encoded by this gene 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.