Gene: LOX

Alternate names for this Gene: AAT10

Gene Summary: This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.1

Description of this Gene: lysyl oxidase

Type of Gene: protein-coding

rs1800449 in LOX gene and Coronary Artery Disease PMID 28714974 2017 Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.

rs886040966 in LOX gene and Familial thoracic aortic aneurysm and aortic dissection PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

PMID 26838787 2016 LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.