Mevalonate kinase: Difference between revisions
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Revision as of 09:41, 13 October 2020
FunctionMevalonate 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. DiseaseMutations in MK resulting in MK deficiency cause hyperimmunoglobulinenemia D, a type of severe early-onset colitis, characterized by abdominal pain, diarrhea and vomiting[2]. RelevanceStructural highlights3D structures of mevalonate kinase2r3v - hMK - human 2r42 - rMK + farnesyl thiopyrophosphate- rat
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ReferencesReferences
- ↑ 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:http://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:http://dx.doi.org/10.1542/peds.2012-3344