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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MVD
mevalonate diphosphate decarboxylase
Chromosome 16 Β· 16q24.2
NCBI Gene: 4597Ensembl: ENSG00000167508.13HGNC: HGNC:7529UniProt: P53602
41PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
diphosphomevalonate decarboxylase activityHsp70 protein bindingprotein homodimerization activityisoprenoid biosynthetic processdisseminated superficial actinic porokeratosisporokeratosis 7, multiple typesneurodegenerative diseaselinear porokeratosis
✦AI Summary

Based on the provided abstracts, there is insufficient information to accurately summarize the function of the MVD gene (mevalonate diphosphate decarboxylase). The abstracts primarily discuss 'MVD' as an abbreviation for various medical conditions - including myxomatous valve disease 1, microvascular density 234, microvascular dysfunction 5, and Marburg virus disease 67. Only one abstract mentions glycoprotein production methods 8, which is unrelated to the mevalonate pathway enzyme. None of the provided abstracts contain information about the mevalonate diphosphate decarboxylase enzyme, its catalytic mechanism involving ATP-dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate, its role in cholesterol biosynthesis, or its association with porokeratosis. To provide an accurate gene function summary, abstracts specifically addressing the biochemical function, molecular mechanism, and clinical significance of the mevalonate diphosphate decarboxylase enzyme would be required.

Sources cited
1
Discusses myxomatous valve disease, not the mevalonate enzyme
PMID: 40519164
2
Studies microvascular density in endometrial cancer, not the mevalonate enzyme
PMID: 40587675
3
Describes filovirus glycoprotein production methods, unrelated to mevalonate pathway
PMID: 38315357
4
Examines microvascular density in oral cancer, not the mevalonate enzyme
PMID: 11299827
5
Reviews microvascular dysfunction assessment methods, not the mevalonate enzyme
PMID: 28904002
6
Maps Marburg virus disease distribution, not the mevalonate enzyme
PMID: 25820266
7
Studies microvascular density in nasal polyps, not the mevalonate enzyme
PMID: 20873541
8
Assesses Marburg virus outbreak risks, not the mevalonate enzyme
PMID: 40898685
Disease Associationsβ“˜21
disseminated superficial actinic porokeratosisOpen Targets
0.71Strong
porokeratosis 7, multiple typesOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
linear porokeratosisOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.27Weak
phototoxic dermatitisOpen Targets
0.22Weak
Varicose veinsOpen Targets
0.15Weak
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.04Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.04Suggestive
nerve plexus diseaseOpen Targets
0.04Suggestive
Tietz syndromeOpen Targets
0.04Suggestive
Tietze syndromeOpen Targets
0.04Suggestive
ermine phenotypeOpen Targets
0.04Suggestive
Porokeratosis 7, multiple typesUniProt
Pathogenic Variants7
NM_002461.3(MVD):c.746T>C (p.Phe249Ser)Pathogenic
Porokeratosis 7, multiple types|MVD-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 249
NM_002461.3(MVD):c.1014-1G>TLikely pathogenic
Porokeratosis 7, multiple types
β˜…β˜†β˜†β˜†2022
NM_002461.3(MVD):c.141+1delPathogenic
Porokeratosis 7, multiple types
β˜…β˜†β˜†β˜†2020
NM_002461.3(MVD):c.1013+1G>TPathogenic
Porokeratosis 7, multiple types
β˜…β˜†β˜†β˜†2019
NM_002461.3(MVD):c.875A>G (p.Asn292Ser)Pathogenic
Porokeratosis 7, multiple types
β˜…β˜†β˜†β˜†β†’ Residue 292
NM_002461.3(MVD):c.71-2A>CLikely pathogenic
MVD-related disorder
β˜†β˜†β˜†β˜†2024
NM_002461.3(MVD):c.811_815del (p.Phe271fs)Likely pathogenic
Linear porokeratosis
β˜†β˜†β˜†β˜†2019β†’ Residue 271
View on ClinVar β†—
Related Genes
ACAT1Protein interaction100%HMGA1Protein interaction100%TM7SF2Protein interaction100%MSMO1Protein interaction100%SC5DProtein interaction99%PDSS1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
82%
Ovary
37%
Bone Marrow
34%
Brain
29%
Heart
27%
Gene Interaction Network
Click a node to explore
MVDACAT1HMGA1TM7SF2MSMO1SC5DPDSS1
PROTEIN STRUCTURE
Preparing viewer…
PDB3D4J Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.36 [1.09–1.71]
RankingsWhere MVD stands among ~20K protein-coding genes
  • #10,039of 20,598
    Most Researched41
  • #3,232of 5,498
    Most Pathogenic Variants7
  • #16,131of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedMVD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hemodynamic forces prevent myxomatous valve disease in mice through KLF2/4 signaling.
PMID: 40519164
J Clin Invest Β· 2025
1.00
2
The expression and relationship of VEGF and MVD in type I endometrial cancer.
PMID: 40587675
Medicine (Baltimore) Β· 2025
0.90
3
Production and Purification of Filovirus Glycoproteins.
PMID: 38315357
Methods Mol Biol Β· 2024
0.80
4
Microvessel density (MVD) and vascular endothelial growth factor expression (VEGF) in human oral squamous cell carcinoma.
PMID: 11299827
Anticancer Res Β· 2001
0.70
5
Assessing Microvascular Function in Humans from a Chronic Disease Perspective.
PMID: 28904002
J Am Soc Nephrol Β· 2017
0.60