UbiA prenyltransferase domain-containing protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''UBIAD1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
The enzyme is named for its canonical role in
ubiquinone
Coenzyme Q10 (CoQ10 ), also known as ubiquinone, is a naturally occurring Cofactor (biochemistry), biochemical cofactor (coenzyme) and an antioxidant produced by the human body. It can also be obtained from dietary sources, such as meat, fish, ...
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
Menadione is a natural organic compound with the formula C6H4(CO)2C2H(CH3). It is an analog of 1,4-naphthoquinone with a methyl group in the 2-position. It is sometimes called vitamin K3. Use is allowed as a nutritional supplement in animal ...
to
MK-4.
This translates to a role in blood vessel development in zebrafish.
[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.]
Clinical significance
Mutations of the UBIAD1 gene cause
Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene.Weiss et al, IOVS (2007) vol 48, 5007-5012 Cells in the cornea accumulate cholesterol and phosopholipid depos ...
.
References
Further reading
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