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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''UBIAD1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
The enzyme is named for its canonical role in
ubiquinone
Coenzyme Q, also known as ubiquinone and marketed as CoQ10, is a coenzyme family that is ubiquitous in animals and most bacteria (hence the name ubiquinone). In humans, the most common form is coenzyme Q10 or ubiquinone-10.
It is a 1,4-benzoq ...
production. Recent evidence suggests that ubiad1 has enzymatic activity in the vitamin K pathway, a role in blood vessel development, and may be involved in oxidative stress pathways.
[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 ...
.
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References
Further reading
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