Mevalonate kinase

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

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

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

Michal Harel, Alexander Berchansky

[1] 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

[2] 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

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