Gene
MVD
mevalonate diphosphate decarboxylase
- HGNC 7529↗(opens in a new tab)
- Ensembl gene ENSG00000167508↗(opens in a new tab)
- NCBI Gene 4597↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q24.2
- Coordinates
- Chromosome 16: 88,651,940–88,663,091 (GRCh38)
- Exons
- 10 exons across 11.2 kb
- Protein
- 400 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- MPD
- MANE Select transcript
- ENST00000301012.8NM_002461.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Porokeratosis
- Autosomal dominant
Ring-shaped skin patches with a raised edge, including disseminated superficial actinic porokeratosis; lesions carry a small risk of turning into skin cancer.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Sun protection and dermatology review of changing lesions are advised.
Broader groupings
Hearing Loss and Deafness
- Nonsyndromic Genetic Hearing Loss
One of 97 genes linked to it
Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How MVD is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.8 kb of the gene's 11.2 kb; 1,203 of those bases code for the protein.
How a genome test reads MVD
5
positions in MVD where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 11.2 kb of MVD, introns included, not only the 1.8 kb of exons.
Genes linked to the same conditions
- ACTG1actin gamma 1Shares 1 condition
- AFG2BAAA ATPase AFG2BShares 1 condition
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATP11AATPase phospholipid transporting 11AShares 1 condition
- ATP2B2ATPase plasma membrane Ca2+ transporting 2Shares 1 condition
- CABP2calcium binding protein 2Shares 1 condition
- CD164CD164 moleculeShares 1 condition
- CDC14Acell division cycle 14AShares 1 condition
- CDH23cadherin related 23Shares 1 condition
- CEACAM16CEA cell adhesion molecule 16, tectorial membrane componentShares 1 condition
- CIB2calcium and integrin binding family member 2Shares 1 condition
- CLDN14claudin 14Shares 1 condition
Traits linked to MVD
The Human Phenotype Ontology lists these as features of the rare conditions MVD can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MVD gene: mevalonate diphosphate decarboxylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mvd
Dante Labs. MVD gene: mevalonate diphosphate decarboxylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mvd
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