UBIAD1
Template:Short description Template:Infobox gene 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.[1][2][3]
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.[4] Recent evidence suggests that ubiad1 has enzymatic activity in the vitamin K pathway, hence a role in blood vessel development.[5][6]
Clinical significance
Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.[7][8][9]
References
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- ↑ R Postel, Identification and Characterization of Novel Genes by Reverse and Forward Genetics in Zebrafish, igitur-archive.library.uu.nl/dissertations/2008-0522.../UUindex.html, 2008.
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Further reading
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