MVK Gene: Mevalonate Kinase
Essential enzyme in the mevalonate pathway; mutations cause metabolic and inflammatory disorders.
Gene Information Card
| Symbol | MVK |
|---|---|
| Full Name | Mevalonate Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 4598 ncbi.nlm.nih.gov/gene/4598 |
| Ensembl ID | ENSG00000110921 |
| UniProt ID | Q03426 |
| OMIM ID | 251170 |
| HGNC ID | 7530 |
| Aliases | MK, MVLK, mevalonate kinase |
Description
The MVK gene encodes mevalonate kinase, a key enzyme in the mevalonate pathway that catalyzes the phosphorylation of mevalonate to 5-phosphomevalonate. This pathway is essential for cholesterol biosynthesis and isoprenoid production. Mutations in MVK cause mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), both autosomal recessive disorders characterized by recurrent fevers and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mevalonic aciduria (MVA) | Loss-of-function mutations impair mevalonate kinase activity, leading to accumulation of mevalonic acid and defective isoprenoid synthesis. | ClinVar, OMIM |
| Hyper-IgD syndrome (HIDS) | Partial loss-of-function mutations cause reduced enzyme activity, triggering periodic fever episodes and elevated IgD levels. | ClinVar, OMIM |
| Porokeratosis | Somatic or germline MVK mutations may contribute to skin lesion development via altered cholesterol metabolism. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adrenal gland | 9.8 | Medium |
| Kidney | 7.2 | Medium |
| Small intestine | 6.1 | Low |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HEK 293 | 10.1 | Embryonic kidney cells |
| K-562 | 8.7 | Leukemia cell line |
| A549 | 6.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1129G>A (p.Val377Ile) | Missense | Common in HIDS | Reduced enzyme activity (~1-5% of normal) |
| c.803T>C (p.Ile268Thr) | Missense | Found in MVA | Severe loss of function |
| c.59A>G (p.Asn20Ser) | Missense | Rare | Mild reduction in activity |
Mutation functional classification
Loss of Function (LOF)
Most MVK mutations reduce or abolish enzyme activity, leading to mevalonic aciduria or HIDS.
Gain of Function (GOF)
Not reported for MVK.
Dominant Negative (DN)
Not described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Mevalonate kinase activity (GO:0004496) | • Isoprenoid biosynthetic process (GO:0008299) |
| • Cholesterol biosynthetic process (GO:0006695) | • Cytoplasm (GO:0005737) |
| • Peroxisome (GO:0005778) |
Pathways
• ['Mevalonate pathway (KEGG: hsa00900)']
• ['Steroid biosynthesis (KEGG: hsa00100)']
• ['Metabolic pathways (KEGG: hsa01100)']
Protein Summary
Mevalonate kinase is a 396-amino-acid cytoplasmic and peroxisomal enzyme that phosphorylates mevalonate using ATP. It is critical for the biosynthesis of cholesterol, ubiquinone, dolichol, and isoprenoids. Deficiency leads to accumulation of mevalonic acid and impaired protein prenylation, causing autoinflammatory phenotypes.
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