UBIAD1 helps to regulate cholesterol biosynthesis.

What is it about?

People with a rare genetic disorder called ‘Schnyder corneal dystrophy’ gradually lose their vision, because their corneas become increasingly cloudy. This cloudiness is caused by a build-up of excessive amounts of cholesterol, and the disorder itself is caused by mutations in a gene that encodes a protein called UBIAD1. We have discovered that the UBIAD1 protein helps to control cholesterol levels by regulating an important enzyme, HMG CoA reductase, that is key to the synthesis of cholesterol.

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Why is it important?

The inhibition of sterol-accelerated degradation of HMG CoA reductase by the vitamin K2 synthetic enzyme UBIAD1 may contribute to the accumulation of cholesterol that is associated with Schnyder corneal dystrophy.