Gene: PLOD3

Alternate names for this Gene: LH3

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

Type of Gene: protein-coding

rs121434414 in PLOD3 gene and Bone Fragility with Contractures, Arterial Rupture, and Deafness PMID 30089812 2018 Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.

PMID 18834968 2008 A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

PMID 30237576 2019 Autozygome and high throughput confirmation of disease genes candidacy.

rs917112 in PLOD3 gene and Malignant neoplasm of esophagus PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.