PLOD2 blocking peptide

PLOD2 Blocking Peptide (C-term)

• Gene Names: PLOD2; LH2; TLH; BRKS2
• Synonyms: PLOD2; PLOD2 Blocking Peptide (C-term); Procollagen-lysine;2-oxoglutarate 5-dioxygenase 2; Lysyl hydroxylase 2; LH2; PLOD2 blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 737

• Cellular Location: Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side
• Tissue Location: 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.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for PLOD2 blocking peptide

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.

NCBI and Uniprot Product Information

• NCBI GI #: 62906878
• NCBI GeneID: 5352
• UniProt Accession #: O00469; Q59ED2; Q8N170; B3KWS3
• Molecular Weight: 49,142 Da
• NCBI Official Full Name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
• NCBI Official Synonym Full Names: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
• NCBI Official Symbol: PLOD2
• NCBI Official Synonym Symbols: LH2; TLH; BRKS2
• NCBI Protein Information: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
• UniProt Protein Name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
• Protein Family: Procollagen-lysine,2-oxoglutarate 5-dioxygenase
• UniProt Gene Name: PLOD2
• UniProt Synonym Gene Names: LH2
• UniProt Entry Name: PLOD2_HUMAN

NCBI Description

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]

Uniprot Description

PLOD2: 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. Defects in PLOD2 are the cause of Bruck syndrome type 2 (BRKS2). Bruck syndrome, 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - lysine degradation; Oxidoreductase; EC 1.14.11.4; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 3q24

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane

Molecular Function: procollagen-lysine 5-dioxygenase activity

Biological Process: protein modification process; response to hypoxia

Disease: Bruck Syndrome 2