Function
Mevalonate kinase (MK) is the first enzyme in the mevalonate pathway which synthesizes sterol isoprenoids like cholesterol and non-sterol isoprenoids like ubiquinone[1]. MK catalyzes the conversion of mevalonate to 5-phosphomevalonate.
Disease
Mutations in MK resulting in MK deficiency cause hyperimmunoglobulinenemia D, a type of severe early-onset colitis, characterized by abdominal pain, diarrhea and vomiting[2].
Relevance
Structural highlights
3D structures of mevalonate kinase
2r3v - hMK - human
2r42 - rMK + farnesyl thiopyrophosphate- rat
1kvk - rMK + ATP
4hac - MmMK - Methanosarcina mazei
6mde - MmMK + mevalonate
6mdf - MmMK + 5-phosphomevalonate
1kkh, 1vis - MK - Methancaldococcus jannaschii
2oi2 - MK + diphosphomevalonate - Streptococcus pneumaniae
2hfs - LmMK - Leishmania major
2hfu - LmMK + mevalonate
2x7i - LmMK - Staphylococcus aureus
- ↑ Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007 Jun;40(9-10):575-84. doi: 10.1016/j.clinbiochem.2007.03.016., Epub 2007 Mar 31. PMID:17467679 doi:https://dx.doi.org/10.1016/j.clinbiochem.2007.03.016
- ↑ Levy M, Arion A, Berrebi D, Cuisset L, Jeanne-Pasquier C, Bader-Meunier B, Jung C. Severe early-onset colitis revealing mevalonate kinase deficiency. Pediatrics. 2013 Sep;132(3):e779-83. doi: 10.1542/peds.2012-3344. Epub 2013 Aug, 26. PMID:23979089 doi:https://dx.doi.org/10.1542/peds.2012-3344
