LOXL1

LOXL1, also known as lysyl oxidase-like 1, is a secreted enzyme encoded by the LOXL1 gene. This gene is found on chromosome 15 in humans. LOXL1 belongs to the lysyl oxidase family, which plays a crucial role in extracellular matrix formation and stabilization. The proteins in this family are involved in catalyzing the cross-linking of collagen and elastin, essential structural proteins in connective tissues.

The specific function of LOXL1 is still being investigated, but it is believed to be involved in the maturation of elastic fibers. Elastic fibers provide tissues with the ability to stretch and recoil, which is vital for organs like the lungs, skin, and blood vessels. Mutations in the LOXL1 gene have been strongly associated with primary open-angle glaucoma (POAG) and exfoliation syndrome (XFS), conditions characterized by increased intraocular pressure and damage to the optic nerve, leading to vision loss.

Research suggests that LOXL1 may also play a role in other connective tissue disorders and in the development of certain cancers, where alterations in the extracellular matrix can influence tumor growth and metastasis. The precise mechanisms by which LOXL1 contributes to these conditions are areas of ongoing scientific inquiry. Understanding LOXL1's function and its relationship to disease is important for developing potential therapeutic strategies.