Cannabaceae

Mevalonate Kinase
Identifiers
EC no.2.7.1.36
CAS no.9026-52-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins
MVK
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMVK, LRBP, MK, MVLK, POROK3, mevalonate kinase
External IDsOMIM: 251170, 260920, 610377, 175900; MGI: 107624; HomoloGene: 372; GeneCards: MVK; OMA:MVK - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000431
NM_001114185
NM_001301182

NM_023556
NM_001306205

RefSeq (protein)

NP_000422
NP_001107657
NP_001288111

NP_001293134
NP_076045

Location (UCSC)Chr 12: 109.57 – 109.6 MbChr 5: 114.58 – 114.6 Mb
PubMed search[4][5]
Wikidata
View/Edit HumanView/Edit Mouse

Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene.[6][7] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:

.

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

Function[edit]

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[6] As the second enzyme in the Mevalonate pathway, it catalyzes the phosphorylation of Mevalonic acid to produce Mevalonate-5-phosphate.[8] A reduction in mevalonate kinase activity to around 5-10% of its typical value is associated with the mevalonate kinase deficiency (MVD) resulting in accumulation of intermediate mevalonic acid.[9]

Mevalonate pathway

Clinical significance[edit]

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[10]

Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash.[6] The symptoms of the disease typically start at infancy and may be additionally triggered by stress or bacterial infection. Children with mevalonate kinase deficiency may remain undiagnosed for a long time as there is not enough scientific data at the moment to accurately diagnose children with the disease.[9]

See also[edit]

References[edit]

  1. ^ PDB: 2X7I​; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, et al. (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". Journal of Structural and Functional Genomics. 11 (2): 167–80. doi:10.1007/s10969-010-9090-y. PMC 2883930. PMID 20419351.
  2. ^ a b c GRCh38: Ensembl release 89: ENSG00000110921Ensembl, May 2017
  3. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041939Ensembl, May 2017
  4. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  6. ^ a b c "Entrez Gene: mevalonate kinase".
  7. ^ Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD (July 1992). "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". The Journal of Biological Chemistry. 267 (19): 13229–38. doi:10.1016/S0021-9258(18)42199-0. PMID 1377680.
  8. ^ Mulders-Manders CM, Simon A (July 2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Seminars in Immunopathology. 37 (4): 371–6. doi:10.1007/s00281-015-0492-6. PMC 4491100. PMID 25990874.
  9. ^ a b Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D (December 2013). "Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level". Rheumatology International. 33 (12): 3039–42. doi:10.1007/s00296-012-2577-z. PMID 23239036. S2CID 3220012.
  10. ^ Online Mendelian Inheritance in Man (OMIM): 260920

Further reading[edit]

External links[edit]


One thought on “Cannabaceae

  1. Well, that’s interesting to know that Psilotum nudum are known as whisk ferns. Psilotum nudum is the commoner species of the two. While the P. flaccidum is a rare species and is found in the tropical islands. Both the species are usually epiphytic in habit and grow upon tree ferns. These species may also be terrestrial and grow in humus or in the crevices of the rocks.
    View the detailed Guide of Psilotum nudum: Detailed Study Of Psilotum Nudum (Whisk Fern), Classification, Anatomy, Reproduction

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