Mevalonate kinase

Mevalonate Kinase

Identifiers
EC number 2.7.1.36
CAS number 9026-52-2
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO
MVK
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases MVK, LRBP, MK, MVLK, POROK3, mevalonate kinase
External IDs OMIM: 251170 MGI: 107624 HomoloGene: 372 GeneCards: MVK
Targeted by Drug
geranyl diphosphate, geranylgeranyl pyrophosphate, ISOPENTENYL PYROPHOSPHATE[2]
Orthologs
Species Human Mouse
Entrez

4598

17855

Ensembl

ENSG00000110921

ENSMUSG00000041939

UniProt

Q03426

Q9R008

RefSeq (mRNA)

NM_000431
NM_001114185
NM_001301182

NM_023556
NM_001306205

RefSeq (protein)

NP_000422.1
NP_001107657.1
NP_001288111.1

NP_076045.1

Location (UCSC) Chr 12: 109.57 – 109.6 Mb Chr 5: 114.44 – 114.46 Mb
PubMed search [3] [4]
Wikidata
View/Edit HumanView/Edit Mouse

Mevalonate kinase is an enzyme that in humans is encoded by the MVK gene.[5][6] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:

.

Function

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[5]

Clinical significance

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[7]

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.[5]

See also

References

  1. PDB: 2X7I; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, Kerou M, Weikart ND, Kadi N, Sheikh MA, Schmelz S, Dorward M, Zawadzki M, Cozens C, Falconer H, Powers H, Overton IM, van Niekerk CA, Peng X, Patel P, Garrett RA, Prangishvili D, Botting CH, Coote PJ, Dryden DT, Barton GJ, Schwarz-Linek U, Challis GL, Taylor GL, White MF, Naismith JH (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". J. Struct. Funct. Genomics. 11 (2): 167–80. doi:10.1007/s10969-010-9090-y. PMC 2883930Freely accessible. PMID 20419351.
  2. "Drugs that physically interact with Mevalonate kinase view/edit references on wikidata".
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  5. 1 2 3 "Entrez Gene: mevalonate kinase".
  6. 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". J. Biol. Chem. 267 (19): 13229–38. PMID 1377680.
  7. Online Mendelian Inheritance in Man (OMIM) 260920

Further reading


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