UBIAD1


UbiA prenyltransferase domain-containing protein 1 also known as transitional epithelial response protein 1 is a protein that in humans is encoded by the UBIAD1 gene.
The enzyme is named for its canonical role in ubiquinone production, catalyzing reaction EC 2.5.1.39; it thus has a role in oxidative stress pathways.
Recent evidence suggests that UBIAD1 has enzymatic activity in the vitamin K pathway, converting menadione to MK-4. This translates to a role in blood vessel development in zebrafish.

Clinical significance

Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.