Rabbit anti-Human UBIAD1 Polyclonal Antibody

Uniprot Id

Q9Y5Z9

Target Species

Human

Target Name

UBIAD1

Target Full Name

UbiA prenyltransferase domain-containing protein 1

Target 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 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.

Target Involvement

Corneal dystrophy, Schnyder type (SCCD)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus.

Target Protein Families

UbiA prenyltransferase family

Target Tissue Specificity

Ubiquitously expressed.

Target Synonyms

SCCD; TERE1; UBIAD1

Target Background

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.