procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; lysyl hydroxylase 2; LH2 (PLOD2)

Function

• forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens
• these hydroxylysines serve as sites of attachment for carbohydrate units & are essential for the stability of the intermolecular collagen cross-links

L-lysine-[procollagen] + 2-oxoglutarate + O2 = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO2

Cofactor:

• iron (putative)
• ascorbate (putative)
• homodimer (putative)

Structure

contains 1 Fe2OG dioxygenase domain

Compartment

• rough endoplasmic reticulum membrane
• peripheral membrane; lumenal side

Alternative splicing

named isoforms=2

Expression

• highly expressed in pancreas & muscle
• isoform 1 & isoform 2 are expressed in most cell types
• isoform 2 is specifically expressed in skin, lung, dura & aorta

Pathology

• defects in PLOD2 are the cause of Bruck syndrome type 2

More general terms

• dioxygenase
• membrane protein
• glycoprotein
• metalloprotein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5352
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5352
• OMIM: https://mirror.omim.org/entry/601865
• OMIM: https://mirror.omim.org/entry/609220
• UniProt: http://www.uniprot.org/uniprot/O00469.html