LOXL1
Description
The LOXL1 (lysyl oxidase like 1) is a protein-coding gene located on chromosome 15.
LOXL1 is a human gene that encodes a member of the lysyl oxidase gene family. This enzyme plays a critical role in connective tissue formation by catalyzing the first step in the formation of crosslinks in collagen and elastin, essential for their stability. Variations in LOXL1 are associated with pseudoexfoliation syndrome, a condition characterized by abnormal cross-linked fibrillar material in the extracellular matrix, leading to exfoliation glaucoma. LOXL1 interacts with FBLN5, suggesting a complex role in extracellular matrix regulation.
LOXL1 catalyzes the oxidative deamination of lysine and hydroxylysine residues in collagen and elastin, leading to the formation of covalent cross-linkages and stabilization of collagen and elastin fibers. This enzyme is crucial for maintaining the homeostasis of elastic fibers throughout adulthood.
LOXL1 is also known as LOL, LOXL.
