蛋白名称
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (EC 1.14.11.4) (Lysyl hydroxylase 2) (LH2)
免疫原
Synthesized peptide derived from human protein . at AA range: 600-680
特异性
PLOD2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
TCFL5; CHA; E2BP1; Transcription factor-like 5 protein; Cha transcription factor; HPV-16 E2-binding protein 1; E2BP-1
背景
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. [provided by RefSeq, Jul 2008],
功能
catalytic activity:Procollagen L-lysine + 2-oxoglutarate + O(2) = procollagen 5-hydroxy-L-lysine + succinate + CO(2).,cofactor:Ascorbate.,cofactor:Iron.,disease:Defects in PLOD2 are the cause of Bruck syndrome 2 (BRKS2) [MIM:609220]. Bruck syndrome [MIM:259450], also known as osteogenesis imperfecta with congenital joint contractures, is an autosomal recessive disease characterized by generalized osteopenia, joint contractures at birth, fragile bones and short stature. It can be distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. The molecular defect is an aberrant cross-linking of bone collagen, due to underhydroxylation of lysine residues within the telopeptides of type I collagen, whereas the lysine residues in the triple helix are normal.,function:Forms hydroxylysine
