| Tbio | UbiA prenyltransferase domain-containing protein 1 |
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.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Corneal Dystrophy, Crystalline, of Schnyder | 1 | 0.0 | 0.0 |
| Edema, Cardiac | 3 | 0.0 | 0.0 |
| Intracranial Hemorrhages | 16 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Corneal dystrophy | 24 |
| Schnyder crystalline corneal dystrophy | 1 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cystinosis | 14 | 3.074 | 1.5 |
| Disease | Target Count |
|---|---|
| Schnyder Corneal Dystrophy | 23 |
MAASQVLGEKINILSGETVKAGDRDPLGNDCPEQDRLPQRSWRQKCASYVLALRPWSFSASLTPVALGSA 1 - 70 LAYRSHGVLDPRLLVGCAVAVLAVHGAGNLVNTYYDFSKGIDHKKSDDRTLVDRILEPQDVVRFGVFLYT 71 - 140 LGCVCAACLYYLSPLKLEHLALIYFGGLSGSFLYTGGIGFKYVALGDLIILITFGPLAVMFAYAIQVGSL 141 - 210 AIFPLVYAIPLALSTEAILHSNNTRDMESDREAGIVTLAILIGPTFSYILYNTLLFLPYLVFSILATHCT 211 - 280 ISLALPLLTIPMAFSLERQFRSQAFNKLPQRTAKLNLLLGLFYVFGIILAPAGSLPKI 281 - 338 //
