Biology:Mevalonate kinase

From HandWiki
Revision as of 05:17, 12 February 2024 by Raymond Straus (talk | contribs) (linkage)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Short description: Mammalian protein found in Homo sapiens
Mevalonate Kinase
MevalonateKinase.png
Identifiers
EC number2.7.1.36
CAS number9026-52-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene.[2][3] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:

.

ATP + (R)-mevalonate [math]\displaystyle{ \rightleftharpoons }[/math] ADP + (R)-5-phosphomevalonate

Function

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[2] As the second enzyme in the Mevalonate pathway, it catalyzes the phosphorylation of Mevalonic acid to produce Mevalonate-5-phosphate.[4] 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.[5]

Clinical significance

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[6]

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.[2] 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.[5]

See also

References

  1. PDB: 2X7I​; "The Scottish Structural Proteomics Facility: targets, methods and outputs". Journal of Structural and Functional Genomics 11 (2): 167–80. June 2010. doi:10.1007/s10969-010-9090-y. PMID 20419351. 
  2. 2.0 2.1 2.2 "Entrez Gene: mevalonate kinase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4598. 
  3. "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. July 1992. doi:10.1016/S0021-9258(18)42199-0. PMID 1377680. 
  4. "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Seminars in Immunopathology 37 (4): 371–6. July 2015. doi:10.1007/s00281-015-0492-6. PMID 25990874. 
  5. 5.0 5.1 "Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level". Rheumatology International 33 (12): 3039–42. December 2013. doi:10.1007/s00296-012-2577-z. PMID 23239036. 
  6. Online Mendelian Inheritance in Man (OMIM) 260920

Further reading

External links