DISEASES

Disease-gene associations mined from literature

Literature associating UBIAD1 and Schnyder corneal dystrophy

UBIAD1 [ENSP00000366006]

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.

Synonyms:  UBIAD1,  UBIAD1p,  hUBIAD1,  Q9Y5Z9,  R4GN21 ...

Linkouts:  STRING  Pharos  UniProt  OMIM