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Gene: MVK (mevalonate kinase) Homo sapiens
Symbol: MVK
Name: mevalonate kinase
Description: This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ96772; LH receptor mRNA-binding protein; LRBP; mevalonate kinase 1; MK; MVLK; POROK3
Mus musculus (house mouse) : Mvk (mevalonate kinase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mvk (mevalonate kinase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mvk (mevalonate kinase)
Pan paniscus (bonobo/pygmy chimpanzee) : MVK (mevalonate kinase)
Canis lupus familiaris (dog) : MVK (mevalonate kinase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mvk (mevalonate kinase)
Sus scrofa (pig) : MVK (mevalonate kinase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh3812109,573,461 - 109,597,270 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712110,011,500 - 110,035,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612108,496,000 - 108,519,450 (+)NCBINCBI36hg18NCBI36
Build 3412108,474,336 - 108,497,787NCBI
Celera12109,635,867 - 109,659,439 (+)NCBI
Cytogenetic Map12q24.11NCBI
HuRef12107,029,480 - 107,053,054 (+)NCBIHuRef
CHM1_112109,979,352 - 110,002,926 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on MVK
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732031
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.