1. (3RS)-Mevalonate
2. (3RS)-Mevalonic acid
3. 2,4-Dideoxy-3-C-methylpentonate
4. 2,4-Dideoxy-3-C-methylpentonic acid
5. 3,5-Dihydroxy-3-methylpentanoate
6. 3,5-Dihydroxy-3-methylpentanoic acid
7. 3,5-Dihydroxy-3-methylvalerate
8. 3,5-Dihydroxy-3-methylvaleric acid
9. 3,5-dihydroxy-3-methyl-Valerate
10. 3,5-dihydroxy-3-methyl-Valeric acid
11. DL-Mevalonate
12. DL-Mevalonic acid
13. Hiochic acid
14. MK 91
15. MVA
16. MVS
17. Mevalonate
18. Mevalonic acid
19. RS-Mevalonate
20. RS-Mevalonic acid
21. b,d-Dihydroxy-b-methylvalerate
22. b,d-Dihydroxy-b-methylvaleric acid
23. b,d-Dihydroxy-beta-methylvalerate
24. b,d-Dihydroxy-beta-methylvaleric acid

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• Cytoplasm (Predicted from LogP)
• endoplasmic reticulum
• peroxisome

• Blood
• Urine

• 270400 (Smith-Lemli-Opitz syndrome)

1. Dmitrieva NA, Perrun'kina AM, Khomulo PS: [Determination of mevalonic acid in the urine and its concentration in the urine of patients with atherosclerosis] Vopr Med Khim. 1968 Jan-Feb;14(1):106-8. [PubMed ]
2. Larson RA, Chung J, Scanu AM, Yachnin S: Neutrophils are required for the DNA synthetic response of human lymphocytes to mevalonic acid: evidence suggesting that a nonsterol product of mevalonate is involved. Proc Natl Acad Sci U S A. 1982 May;79(9):3028-32. [PubMed ]
3. Siavoshian S, Simoneau C, Maugeais P, Marks L, Rodary L, Gardette J, Krempf M: Measurement of mevalonic acid in human urine by bench top gas chromatography-mass spectrometry. Clin Chim Acta. 1995 Dec 29;243(2):129-36. [PubMed ]
4. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999 Jun;22(2):175-7. [PubMed ]
5. Mitchell ED Jr, Avigan J: Control of phosphorylation and decarboxylation of mevalonic acid and its metabolites in cultured human fibroblasts and in rat liver in vivo. J Biol Chem. 1981 Jun 25;256(12):6170-3. [PubMed ]
6. Abrar M, Martin PD: Validation and application of an assay for the determination of mevalonic acid in human plasma by liquid chromatography tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jun 25;773(2):103-11. [PubMed ]
7. Haas D, Kelley RI, Hoffmann GF: Inherited disorders of cholesterol biosynthesis. Neuropediatrics. 2001 Jun;32(3):113-22. [PubMed ]
8. Larson RA, Kluskens LE, Yachnin S: The DNA synthetic response of normal and abnormal human lymphocytes to mevalonic acid: the role of granulocytes as a helper population. J Allergy Clin Immunol. 1984 Sep;74(3 Pt 1):280-90. [PubMed ]
9. Larson RA, Yachnin S: Mevalonic acid induces DNA synthesis in chronic lymphocytic leukemia cells. Blood. 1984 Jul;64(1):257-62. [PubMed ]
10. Parker TS, McNamara DJ, Brown CD, Kolb R, Ahrens EH Jr, Alberts AW, Tobert J, Chen J, De Schepper PJ: Plasma mevalonate as a measure of cholesterol synthesis in man. J Clin Invest. 1984 Sep;74(3):795-804. [PubMed ]
11. Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyanek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK, et al.: Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta. 1991 May 15;198(3):209-27. [PubMed ]
12. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L: Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986 Jun 19;314(25):1610-4. [PubMed ]
13. Jemal M, Schuster A, Whigan DB: Liquid chromatography/tandem mass spectrometry methods for quantitation of mevalonic acid in human plasma and urine: method validation, demonstration of using a surrogate analyte, and demonstration of unacceptable matrix effect in spite of use of a stable isotope analog internal standard. Rapid Commun Mass Spectrom. 2003;17(15):1723-34. [PubMed ]
14. Lindenthal B, von Bergmann K: Urinary excretion and serum concentration of mevalonic acid during acute intake of alcohol. Metabolism. 2000 Jan;49(1):62-6. [PubMed ]
15. Wikipedia

1. 3-hydroxy-3-methylglutaryl-coenzyme A reductase
2. Mevalonate kinase
3. cDNA, FLJ96772, Homo sapiens mevalonate kinase (mevalonic aciduria) (MVK), mRNA (Mevalonate kinase (Mevalonic aciduria), isoform CRA_c)

1. HMG-CoA reductase

MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSS
DIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTG
LNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIG
VGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQLSHFAR
VLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKR
IEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVT
QKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNS
SLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYK
LETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGV
AGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRAC
DSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMI
SKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREV
LKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITL
MEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLAR
IVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA

• Steroid Biosynthesis (map00100 )

• (R)-mevalonate + CoA + 2 NADP+ = (S)-3-hydroxy-3-methylglutaryl-CoA + 2 NADPH + 2 H+

• HMG-CoA_red (PF00368 )

• 1-23

ATGTTGTCAAGACTTTTTCGAATGCATGGCCTCTTTGTGGCCTCCCATCCCTGGGAAGTC
ATAGTGGGGACAGTGACACTGACCATCTGCATGATGTCCATGAACATGTTTACTGGTAAC
AATAAGATCTGTGGTTGGAATTATGAATGTCCAAAGTTTGAAGAGGATGTTTTGAGCAGT
GACATTATAATTCTGACAATAACACGATGCATAGCCATCCTGTATATTTACTTCCAGTTC
CAGAATTTACGTCAACTTGGATCAAAATATATTTTGGGTATTGCTGGCCTTTTCACAATT
TTCTCAAGTTTTGTATTCAGTACAGTTGTCATTCACTTCTTAGACAAAGAATTGACAGGC
TTGAATGAAGCTTTGCCCTTTTTCCTACTTTTGATTGACCTTTCCAGAGCAAGCACATTA
GCAAAGTTTGCCCTCAGTTCCAACTCACAGGATGAAGTAAGGGAAAATATTGCTCGTGGA
ATGGCAATTTTAGGTCCTACGTTTACCCTCGATGCTCTTGTTGAATGTCTTGTGATTGGA
GTTGGTACCATGTCAGGGGTACGTCAGCTTGAAATTATGTGCTGCTTTGGCTGCATGTCA
GTTCTTGCCAACTACTTCGTGTTCATGACTTTCTTCCCAGCTTGTGTGTCCTTGGTATTA
GAGCTTTCTCGGGAAAGCCGCGAGGGTCGTCCAATTTGGCAGCTCAGCCATTTTGCCCGA
GTTTTAGAAGAAGAAGAAAATAAGCCGAATCCTGTAACTCAGAGGGTCAAGATGATTATG
TCTCTAGGCTTGGTTCTTGTTCATGCTCACAGTCGCTGGATAGCTGATCCTTCTCCTCAA
AACAGTACAGCAGATACTTCTAAGGTTTCATTAGGACTGGATGAAAATGTGTCCAAGAGA
ATTGAACCAAGTGTTTCCCTCTGGCAGTTTTATCTCTCTAAAATGATCAGCATGGATATT
GAACAAGTTATTACCCTAAGTTTAGCTCTCCTTCTGGCTGTCAAGTACATCTTCTTTGAA
CAAACAGAGACAGAATCTACACTCTCATTAAAAAACCCTATCACATCTCCTGTAGTGACA
CAAAAGAAAGTCCCAGACAATTGTTGTAGACGTGAACCTATGCTGGTCAGAAATAACCAG
AAATGTGATTCAGTAGAGGAAGAGACAGGGATAAACCGAGAAAGAAAAGTTGAGGTTATA
AAACCCTTAGTGGCTGAAACAGATACCCCAAACAGAGCTACATTTGTGGTTGGTAACTCC
TCCTTACTCGATACTTCATCAGTACTGGTGACACAGGAACCTGAAATTGAACTTCCCAGG
GAACCTCGGCCTAATGAAGAATGTCTACAGATACTTGGGAATGCAGAGAAAGGTGCAAAA
TTCCTTAGTGATGCTGAGATCATCCAGTTAGTCAATGCTAAGCATATCCCAGCCTACAAG
TTGGAAACTCTGATGGAAACTCATGAGCGTGGTGTATCTATTCGCCGACAGTTACTTTCC
AAGAAGCTTTCAGAACCTTCTTCTCTCCAGTACCTACCTTACAGGGATTATAATTACTCC
TTGGTGATGGGAGCTTGTTGTGAGAATGTTATTGGATATATGCCCATCCCTGTTGGAGTG
GCAGGACCCCTTTGCTTAGATGAAAAAGAATTTCAGGTTCCAATGGCAACAACAGAAGGT
TGTCTTGTGGCCAGCACCAATAGAGGCTGCAGAGCAATAGGTCTTGGTGGAGGTGCCAGC
AGCCGAGTCCTTGCAGATGGGATGACTCGTGGCCCAGTTGTGCGTCTTCCACGTGCTTGT
GACTCTGCAGAAGTGAAAGCCTGGCTCGAAACATCTGAAGGGTTCGCAGTGATAAAGGAG
GCATTTGACAGCACTAGCAGATTTGCACGTCTACAGAAACTTCATACAAGTATAGCTGGA
CGCAACCTTTATATCCGTTTCCAGTCCAGGTCAGGGGATGCCATGGGGATGAACATGATT
TCAAAGGGTACAGAGAAAGCACTTTCAAAACTTCACGAGTATTTCCCTGAAATGCAGATT
CTAGCCGTTAGTGGTAACTATTGTACTGACAAGAAACCTGCTGCTATAAATTGGATAGAG
GGAAGAGGAAAATCTGTTGTTTGTGAAGCTGTCATTCCAGCCAAGGTTGTCAGAGAAGTA
TTAAAGACTACCACAGAGGCTATGATTGAGGTCAACATTAACAAGAATTTAGTGGGCTCT
GCCATGGCTGGGAGCATAGGAGGCTACAACGCCCATGCAGCAAACATTGTCACCGCCATC
TACATTGCCTGTGGACAGGATGCAGCACAGAATGTTGGTAGTTCAAACTGTATTACTTTA
ATGGAAGCAAGTGGTCCCACAAATGAAGATTTATATATCAGCTGCACCATGCCATCTATA
GAGATAGGAACGGTGGGTGGTGGGACCAACCTACTACCTCAGCAAGCCTGTTTGCAGATG
CTAGGTGTTCAAGGAGCATGCAAAGATAATCCTGGGGAAAATGCCCGGCAGCTTGCCCGA
ATTGTGTGTGGGACCGTAATGGCTGGGGAATTGTCACTTATGGCAGCATTGGCAGCAGGA
CATCTTGTCAAAAGTCACATGATTCACAACAGGTCGAAGATCAATTTACAAGACCTCCAA
GGAGCTTGCACCAAGAAGACAGCCTGA

1. Luskey KL, Stevens B: Human 3-hydroxy-3-methylglutaryl coenzyme A reductase. Conserved domains responsible for catalytic activity and sterol-regulated degradation. J Biol Chem. 1985 Aug 25;260(18):10271-7. [PubMed ]
2. Istvan ES, Palnitkar M, Buchanan SK, Deisenhofer J: Crystal structure of the catalytic portion of human HMG-CoA reductase: insights into regulation of activity and catalysis. EMBO J. 2000 Mar 1;19(5):819-30. [PubMed ]
3. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed ]

1. MK

MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKR
AWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSIC
RKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKE
DLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVP
RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQAL
TSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL

• Steroid Biosynthesis (map00100 )

• ATP + (R)-mevalonate = ADP + (R)-5-phosphomevalonate

• GHMP_kinases_C (PF08544 )
• GHMP_kinases_N (PF00288 )

• None

• None

ATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACAT
GCCGTGGTACATGGCAAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGG
CTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGG
GCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTGGAGCAAGGTGATGTC
ACAACACCCACCTCAGAGCAAGTGGAGAAGCTAAAGGAGGTTGCAGGCTTGCCTGACGAC
TGTGCTGTCACCGAGCGCCTGGCTGTGCTGGCCTTTCTTTACTTATACCTGTCCATCTGC
CGGAAGCAGAGGGCCCTGCCGAGCCTGGATATCGTAGTGTGGTCGGAGCTGCCCCCCGGG
GCGGGCTTGGGCTCCAGCGCCGCCTACTCGGTGTGTCTGGCAGCAGCCCTCCTGACTGTG
TGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGCGTCAACAGGTGGACCAAGGAG
GATTTGGAGCTAATTAACAAGTGGGCCTTCCAAGGGGAGAGAATGATTCACGGGAACCCC
TCCGGAGTGGACAATGCTGTCAGCACCTGGGGAGGAGCCCTCCGATACCATCAAGGGAAG
ATTTCATCCTTAAAGAGGTCGCCAGCTCTCCAGATCCTGCTGACCAACACCAAAGTCCCT
CGCAATACCAGGGCCCTTGTGGCTGGCGTCAGAAACAGGCTGCTCAAGTTCCCAGAGATC
GTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCCCTGGAGTGTGAGCGCGTGCTGGGA
GAGATGGGGGAAGCCCCAGCCCCGGAGCAGTACCTCGTGCTGGAAGAGCTCATTGACATG
AACCAGCACCATCTGAATGCCCTCGGCGTGGGCCACGCCTCTCTGGACCAGCTCTGCCAG
GTGACCAGGGCCCGCGGACTTCACAGCAAGCTGACTGGCGCAGGCGGTGGTGGCTGTGGC
ATCACACTCCTCAAGCCAGGGCTGGAGCAGCCAGAAGTGGAGGCCACGAAGCAGGCCCTG
ACCAGCTGTGGCTTTGACTGCTTGGAAACCAGCATCGGTGCCCCCGGCGTCTCCATCCAC
TCAGCCACCTCCCTGGACAGCCGAGTCCAGCAAGCCCTGGATGGCCTCTGA

1. Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD: Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J Biol Chem. 1992 Jul 5;267(19):13229-38. [PubMed ]
2. Graef E, Caselmann WH, Wells J, Koshy R: Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line. Oncogene. 1994 Jan;9(1):81-7. [PubMed ]
3. Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet. 2001 Apr;9(4):253-9. [PubMed ]
4. Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, Divry P, Mancini J, Hoffmann GF, Gibson KM: Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet. 1999 Aug;65(2):327-35. [PubMed ]
5. Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR: Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Hum Mol Genet. 1999 Aug;8(8):1523-8. [PubMed ]
6. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999 Jun;22(2):175-7. [PubMed ]
7. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M: Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 1999 Jun;22(2):178-81. [PubMed ]
8. Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M: Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet. 2001 Apr;9(4):260-6. [PubMed ]

MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKR
AWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSIC
RKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKE
DLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVP
RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQAL
TSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL

• GHMP_kinases_C (PF08544 )
• GHMP_kinases_N (PF00288 )

• None

• None