摘要：Abstract Heterozygous mutations in the {UBIAD1} gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea. Ubiad1 protein was recently identified as Golgi prenyltransferase responsible for biosynthesis of vitamin {K2} and CoQ10, a key protein in the mitochondrial electron transport chain. Our study shows that silencing {UBIAD1} in cultured human hepatocellular carcinoma cells causes dramatic morphological changes and cholesterol storage in the mitochondria, emphasizing an important role of {UBIAD1} in mitochondrial function.
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