UBIAD1


Description

The UBIAD1 (UbiA prenyltransferase domain containing 1) is a protein-coding gene located on chromosome 1.

UBIAD1, also known as TERE1, is a human protein encoded by the UBIAD1 gene. It plays a crucial role in ubiquinone production, catalyzing the reaction EC 2.5.1.39, and is involved in oxidative stress pathways. Recent research indicates that UBIAD1 also has enzymatic activity in the vitamin K pathway, suggesting a role in blood vessel development.

UBIAD1 is a prenyltransferase that synthesizes menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform crucial for endothelial cell development and is highly concentrated in the brain, kidney, and pancreas. UBIAD1 converts phylloquinone (PK) into MK-4 by cleaving PK's side chain to release menadione (K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP). Notably, UBIAD1 also contributes to cardiovascular development independent of MK-4 biosynthesis by acting as a coenzyme Q10 biosynthetic enzyme. Coenzyme Q10, also known as ubiquinone, is a vital antioxidant in the cardiovascular system. UBIAD1 mediates coenzyme Q10 synthesis in the Golgi membrane, safeguarding cardiovascular tissues from oxidative stress.

UBIAD1 is also known as SCCD, TERE1.

Associated Diseases


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