MVK : mevalonate kinase
Description
The MVK (mevalonate kinase) is a protein-coding gene located on chromosome 12.
The MVK gene provides instructions for making the mevalonate kinase enzyme, which converts mevalonic acid into mevalonate-5-phosphate. This is the second step in the cholesterol production pathway. Cholesterol is then used to produce steroid hormones, essential for development and reproduction, and bile acids, crucial for fat digestion. Mevalonate kinase also plays a role in producing substances vital for various cellular functions like cell growth, maturation, cytoskeleton formation, gene expression, and protein production and modification.
Mevalonate kinase catalyzes the phosphorylation of mevalonate to mevalonate-5-phosphate, a critical step in the biosynthesis of isoprenoids and cholesterol.
MVK is also known as LRBP, MK, MVLK, POROK3.
Associated Diseases
- Mevalonic aciduria
- Hyper-Igd syndrome
- Hyperimmunoglobulinemia D with periodic fever
- Porokeratosis 3, multiple types
- Disseminated superficial actinic porokeratosis
- Porokeratosis of Mibelli
- Mevalonate kinase deficiency
