Aliases for UBIAD1 Gene
External Ids for UBIAD1 Gene
Previous HGNC Symbols for UBIAD1 Gene
Previous GeneCards Identifiers for UBIAD1 Gene
This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
GeneCards Summary for UBIAD1 Gene
UBIAD1 (UbiA Prenyltransferase Domain Containing 1) is a Protein Coding gene. Diseases associated with UBIAD1 include Schnyder Corneal Dystrophy and Corneal Dystrophy. Among its related pathways are Metabolism of fat-soluble vitamins and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include antioxidant activity and prenyltransferase activity.
UniProtKB/Swiss-Prot Summary for UBIAD1 Gene
Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.