Mevalonate kinase

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:

Mevalonate Kinase
Crystallographic structure of mevalonate kinase from Staphylococcus aureus.[1]
Identifiers
EC no.	2.7.1.36
CAS no.	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 / QuickGO
Search PMC articles PubMed articles NCBI proteins

MVK
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2R3V
Identifiers
Aliases	MVK, LRBP, MK, MVLK, POROK3, mevalonate kinase
External IDs	OMIM: 251170, 260920, 610377, 175900; MGI: 107624; HomoloGene: 372; GeneCards: MVK; OMA:MVK - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[2] Band 12q24.11 Start 109,573,255 bp[2] End 109,598,125 bp[2]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[3] Band 5 F|5 55.99 cM Start 114,582,330 bp[3] End 114,598,652 bp[3]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver C1 segment pancreatic ductal cell skin of leg skin of abdomen left testis right testis olfactory zone of nasal mucosa right adrenal cortex left adrenal cortex Top expressed in lip tongue yolk sac Meckel's cartilage neural tube ventricular zone esophagus Ileal epithelium entorhinal cortex choroid plexus of fourth ventricle More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding kinase activity protein binding mevalonate kinase activity magnesium ion binding ATP binding identical protein binding metal ion binding Cellular component cytoplasm cytosol peroxisome Biological process steroid metabolic process sterol biosynthetic process phosphorylation lipid metabolism cholesterol metabolic process isoprenoid biosynthetic process cholesterol biosynthetic process negative regulation of inflammatory response steroid biosynthetic process isopentenyl diphosphate biosynthetic process, mevalonate pathway regulation of cholesterol biosynthetic process metabolism Sources:Amigo / QuickGO
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 NP_001107657 NP_001288111 NP_001293134 NP_076045 Location (UCSC) Chr 12: 109.57 – 109.6 Mb Chr 5: 114.58 – 114.6 Mb PubMed search [4] [5]
Wikidata
View/Edit Human View/Edit Mouse

.

ATP + (R)-mevalonate ${\displaystyle \rightleftharpoons }$ ADP + (R)-5-phosphomevalonate

Function

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

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

• Mevalonic aciduria
• Mevalonic acid