Indeed, the phenotype of Cyp27a1 KO mice was mainly expressed in the liver, with a severe microvesicular steatosis, whereas CYP27A1 deficiency in humans with Cerebrotendinous Xanthomatosis (CTX), clinical manifestations include bilateral juvenile cataracts and accumulation of cholestanol in different tissues [21]. Here, CYP27A1 is linked to cerebrotendinous xanthomatosis.