UBIAD1 Antibody – Rabbit Polyclonal

UBIAD1: Prenyltransferase that mediates the formation of menaquinone-4 (MK-4), a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas. Mediates the conversion of phylloquinone (PK) into menaquinone-4 (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. Defects in UBIAD1 are the cause of crystalline corneal dystrophy of Schnyder (SCCD). SCCD is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. Belongs to the UbiA prenyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.5.1.-; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1p36.22

Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; mitochondrial membrane; cytoplasm; integral to Golgi membrane; nucleus

Molecular Function: antioxidant activity; protein binding; prenyltransferase activity

Biological Process: menaquinone biosynthetic process; ubiquinone biosynthetic process; vitamin K biosynthetic process

Disease: Schnyder Corneal Dystrophy