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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PMVK
phosphomevalonate kinase
Chromosome 1 · 1q21.3
NCBI Gene: 10654Ensembl: ENSG00000163344.7HGNC: HGNC:9141UniProt: Q15126
66PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATP bindingresponse to cholesterolphosphomevalonate kinase activitycytosolporokeratosis 1, Mibelli typeneurodegenerative diseaselinear porokeratosisporokeratosis
✦AI Summary

PMVK (phosphomevalonate kinase) catalyzes the ATP-dependent phosphorylation of mevalonate 5-phosphate to mevalonate diphosphate, a critical step in the mevalonate pathway for biosynthesis of cholesterol and polyisoprenoid metabolites 1. Beyond its canonical metabolic role, PMVK exhibits non-canonical functions in cell signaling and immunity. PMVK stabilizes β-catenin signaling through two mechanisms: its product mevalonate 5-diphosphate competitively inhibits CKIα-mediated β-catenin phosphorylation, while PMVK directly phosphorylates β-catenin at Ser184 2. Additionally, PMVK phosphorylates and stabilizes glutamate decarboxylase 1, promoting synthesis of 4-acetaminobutyric acid that suppresses CD8+ T cell activation in the tumor microenvironment 3. Clinically, PMVK mutations cause porokeratosis, an autoinflammatory keratinization disease characterized by aberrant skin lesions 4. Loss-of-function PMVK variants result in defective mevalonate pathway function, and topical cholesterol/lovastatin therapy (replenishing end-products while blocking toxic precursor accumulation) effectively treats PMVK-associated porokeratosis 1. PMVK also promotes cancer progression through β-catenin signaling and DNA repair pathway support; PMVK inhibition enhances radiosensitivity in lung cancer by impairing homologous recombination repair 5, and blocks hepatocellular carcinoma progression when combined with immune checkpoint inhibition 3.

Sources cited
1
PMVK mutations cause porokeratosis; topical cholesterol/lovastatin therapy is effective for PMVK-mutant porokeratosis
PMID: 31449901
2
PMVK germline mutations with somatic second-hit mutations cause linear porokeratosis
PMID: 35853659
3
PMVK phosphorylates GAD1 to increase GABA synthesis and enables conversion to 4-Ac-GABA, which suppresses CD8+ T cell activation via GABAA receptors
PMID: 39325640
4
PMVK mutations are among the mevalonate pathway gene variants causing autoinflammatory keratinization diseases including porokeratosis
PMID: 38103162
5
PMVK stabilizes β-catenin signaling through mevalonate 5-diphosphate-mediated CKIα inhibition and direct PMVK-mediated β-catenin phosphorylation at Ser184
PMID: 36808719
6
Mevalonate pathway genes including PMVK cause hereditary porokeratosis through germline and somatic variants affecting cholesterol biosynthesis
PMID: 38653249
7
Novel heterozygous PMVK missense variant c.207G>T (p.Lys69Asn) identified as pathogenic cause of familial porokeratosis
PMID: 37315547
8
PMVK knockdown enhances radiosensitivity in lung cancer by promoting RPA1 ubiquitination and impairing homologous recombination DNA repair
PMID: 37650703
Disease Associationsⓘ21
porokeratosis 1, Mibelli typeOpen Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
linear porokeratosisOpen Targets
0.40Weak
porokeratosisOpen Targets
0.37Weak
porokeratosis of MibelliOpen Targets
0.37Weak
functional neutrophil defectOpen Targets
0.33Weak
genetic disorderOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
total knee arthroplastyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
osteoarthritis, kneeOpen Targets
0.06Suggestive
osteoarthritisOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
dyslexiaOpen Targets
0.03Suggestive
benign chondrogenic neoplasmOpen Targets
0.02Suggestive
tetrasomy 12pOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
Porokeratosis 1, multiple typesUniProt
Pathogenic Variants6
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter)Pathogenic
not provided|Linear porokeratosis|Porokeratosis 1, Mibelli type|PMVK-related disorder
★★☆☆2023→ Residue 27
NM_006556.4(PMVK):c.96-1G>ALikely pathogenic
Porokeratosis 1, Mibelli type
★☆☆☆2025
NM_006556.4(PMVK):c.329G>A (p.Arg110Gln)Likely pathogenic
Linear porokeratosis
☆☆☆☆2019→ Residue 110
NM_006556.4(PMVK):c.379C>T (p.Gln127Ter)Likely pathogenic
Linear porokeratosis
☆☆☆☆2019→ Residue 127
NM_006556.4(PMVK):c.412C>T (p.Arg138Ter)Pathogenic
Porokeratosis 1, Mibelli type
☆☆☆☆2015→ Residue 138
NM_006556.4(PMVK):c.550del (p.Asn183_Leu184insTer)Pathogenic
Porokeratosis 1, Mibelli type
☆☆☆☆2015→ Residue 183
View on ClinVar ↗
Related Genes
ACAT1Protein interaction99%HMGCS2Protein interaction99%HMGA1Protein interaction99%GGPS1Protein interaction99%MVDProtein interaction86%FDPSProtein interaction85%
Tissue Expression6 tissues
Liver
100%
Brain
61%
Heart
50%
Ovary
41%
Lung
32%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
PMVKACAT1HMGCS2HMGA1GGPS1MVDFDPS
PROTEIN STRUCTURE
Preparing viewer…
PDB3CH4 · 1.76 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.53 [0.33–0.87]
RankingsWhere PMVK stands among ~20K protein-coding genes
  • #7,102of 20,598
    Most Researched66
  • #3,370of 5,498
    Most Pathogenic Variants6
  • #7,656of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedPMVK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.
PMID: 31449901
J Am Acad Dermatol · 2020
1.00
2
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
PMID: 35853659
Pediatr Dermatol · 2022
0.90
3
Increases in 4-Acetaminobutyric Acid Generated by Phosphomevalonate Kinase Suppress CD8
PMID: 39325640
Adv Sci (Weinh) · 2024
0.80
4
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
PMID: 38103162
Clin Rev Allergy Immunol · 2023
0.70
5
Phosphomevalonate Kinase Controls β-Catenin Signaling via the Metabolite 5-Diphosphomevalonate.
PMID: 36808719
Adv Sci (Weinh) · 2023
0.60