Gene LOXL1
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Also known as
lysyl oxidase like 1, lysyl oxidase-like protein 1, LOXLOverview
LOXL1 (Lysyl Oxidase Like 1) encodes an enzyme that crosslinks collagen and elastin in the extracellular matrix, similar to LOX. LOXL1 is particularly important in elastic fiber homeostasis and is highly expressed in tissues requiring elasticity, including the eye (trabecular meshwork, lamina cribrosa), skin, lungs, and blood vessels. The enzyme plays critical roles in maintaining tissue structure throughout life.Variants in LOXL1 are among the strongest known genetic risk factors for exfoliation syndrome and exfoliation glaucoma, a leading cause of blindness worldwide. The G153D and R141L polymorphisms significantly affect LOXL1 function and glaucoma risk, though risk alleles vary between populations. LOXL1 variants also influence skin elasticity and may contribute to skin aging and pelvic organ prolapse.
Understanding your LOXL1 genetic status provides insights into elastic fiber maintenance and glaucoma risk. This information is particularly valuable for eye health monitoring, understanding skin elasticity, and guiding preventive strategies for exfoliation glaucoma.