Protein-coding gene in the species Homo sapiens
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a protein that in humans is encoded by the UBIAD1 gene.[5][6][7]
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.[8] Recent evidence suggests that ubiad1 has enzymatic activity in the vitamin K pathway, hence a role in blood vessel development.[9][10]
Clinical significance
Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.[11][12]>[13]