LOXL2

LOXL2, also known as Lysyl Oxidase-like 2, is a protein that in humans is encoded by the LOXL2 gene. This gene is located on chromosome 19q13.3. LOXL2 is a member of the lysyl oxidase family, which includes LOXL1 and LOXL3. Lysyl oxidases are copper-dependent enzymes that catalyze the oxidative deamination of specific lysine residues in proteins, leading to the formation of cross-links that stabilize extracellular matrix proteins.

LOXL2 plays a crucial role in the synthesis and stabilization of extracellular matrix proteins, particularly collagen. It is involved in the post-translational modification of collagen, which is essential for the structural integrity and mechanical properties of tissues. LOXL2 is expressed in various tissues, including skin, bone, and cartilage, where it contributes to the formation and maintenance of these structures.

Mutations in the LOXL2 gene have been associated with several genetic disorders, including Ehlers-Danlos syndromes (EDS), particularly EDS type VIIC. These syndromes are characterized by connective tissue fragility and abnormalities in skin, joints, and blood vessels. The specific role of LOXL2 in these disorders is not fully understood, but it is believed to be involved in the dysregulation of collagen cross-linking, leading to tissue weakness and instability.

Research on LOXL2 is ongoing, with efforts focused on understanding its molecular mechanisms and potential therapeutic applications. Inhibitors of LOXL2 have been developed and studied for their potential in treating connective tissue disorders and other conditions where abnormal collagen cross-linking is implicated. However, the clinical use of these inhibitors is still in the experimental stage.