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Gene: MVK (mevalonate kinase) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on MVK
Alliance Gene
NCBI 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



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