Fig. 4: Dysregulation of CYP51A1 expression is associated with multiple human diseases.

This schematic illustrates the diverse pathological outcomes associated with altered CYP51A1 expression across multiple human diseases. In cancer, elevated expression of CYP51A1 facilitates increased cholesterol biosynthesis, thereby supporting tumor growth and progression. In cataracts, either mutation or dysregulated expression of CYP51A1 may interfere with cholesterol homeostasis during lens development, potentially contributing to opacification. In Antley–Bixler syndrome, loss-of-function mutations or gene deletions impair sterol biosynthesis, resulting in congenital malformations such as skeletal and cardiac defects. In neurodegenerative diseases, such as Parkinson’s disease, decreased CYP51A1 expression reduces lanosterol levels, which may compromise neuronal survival. In autoimmune disorders, CYP51A1 upregulation has been linked to abnormal immune cell activation and impaired remyelination. In metabolic liver diseases, CYP51A1 downregulation contributes to cholesterol deficiency and promotes hepatic injury. Collectively, these disease associations underscore the critical role of CYP51A1 in maintaining tissue-specific metabolic balance and preventing pathogenesis.