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]
Function:
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 biosyntetic enzyme: coenzyme Q10, also named ubiquinone, plays a 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.
Subcellular Location:
Endoplasmic reticulum membrane. Cytoplasm. Nucleus. Mitochondrion.
Tissue Specificity:
Ubiquitously expressed.
DISEASE:
Defects in UBIAD1 are the cause of crystalline corneal dystrophy of Schnyder (SCCD) [MIM:12360]. SCCD is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids.
Similarity:
Belongs to the ubiA prenyltransferase family.
SWISS:
Q9Y5Z9
Gene ID:
29914
Database links:
Entrez Gene: 29914 Human
Entrez Gene: 71707 Mouse
Entrez Gene: 313706 Rat
Omim: 611632 Human
SwissProt: Q9Y5Z9 Human
SwissProt: Q9DC60 Mouse
SwissProt: D3ZG27 Rat
Unigene: 522933 Human
Unigene: 292503 Mouse
Unigene: 203344 Rat
|
|
