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Gene

MVK

mevalonate kinase

Summary

Cytogenetic location
12q24.11
Coordinates
Chromosome 12: 109,573,794–109,598,125 (GRCh38)
Exons
11 exons across 24.3 kb
Protein
396 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
LRBP, MK
MANE Select transcript
ENST00000228510.8NM_000431.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Periodic Fever Syndromes

    • Mevalonate kinase deficiency (MKD)Autosomal recessive

      Caused by changes in MVK, it ranges from recurrent fevers with swollen lymph nodes and abdominal pain (hyper-IgD syndrome) to a severe form with developmental problems (mevalonic aciduria).

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Recognition allows targeted treatment of attacks and avoids unnecessary investigations.

  • 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.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Sun protection and dermatology review of changing lesions are advised.

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.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MVK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where MVK sits. MVK and 16 genes near it on chromosome 12, from 109,085,960 to 110,085,959.Chromosome 1212q24.11p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33109.2 Mb109.4 Mb109.6 Mb109.8 Mb110 MbUSP30: 109,023,089–109,088,023, forward strandUSP30ALKBH2: 109,085,154–109,098,462, reverse strandALKBH2UNG: 109,097,569–109,126,725, forward strandUNGACACB: 109,116,320–109,268,226, forward strandACACBFOXN4: 109,277,978–109,309,289, reverse strandFOXN4MYO1H: 109,347,900–109,455,523, forward strandMYO1HKCTD10: 109,448,655–109,477,359, reverse strandKCTD10UBE3B: 109,477,375–109,536,705, forward strandUBE3BMMAB: 109,553,715–109,573,580, reverse strandMMABMVK: 109,573,794–109,598,125, forward strandMVKFAM222A: 109,713,819–109,770,495, forward strandFAM222ATRPV4: 109,783,087–109,833,542, reverse strandTRPV4GLTP: 109,850,943–109,880,549, reverse strandGLTPTCHP: 109,900,264–109,983,841, forward strandTCHPGIT2: 109,929,792–109,996,389, reverse strandGIT2ANKRD13A: 109,999,186–110,039,763, forward strandANKRD13AC12orf76: 110,020,353–110,073,636, reverse strandC12orf76Diagram of MVK: 11 exons on the forward strand of chromosome 12Exon 2: 10 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 16 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 1: 109,573,794–109,573,873, 80 basesExon 2: 109,574,809–109,574,900, 92 basesExon 3: 109,575,998–109,576,145, 148 basesExon 4: 109,579,802–109,579,946, 145 basesExon 5: 109,581,395–109,581,550, 156 basesExon 6: 109,586,022–109,586,125, 104 basesExon 7: 109,586,754–109,586,799, 46 basesExon 8: 109,590,771–109,590,861, 91 basesExon 9: 109,591,241–109,591,357, 117 basesExon 10: 109,595,028–109,595,181, 154 basesExon 11: 109,596,426–109,598,125, 1,700 bases12345678910115′3′

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 2.8 kb of the gene's 24.3 kb; 1,191 of those bases code for the protein.

How a genome test reads MVK

101

positions in MVK 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 24.3 kb of MVK, introns included, not only the 2.8 kb of exons.

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

APA

Dante Labs. (n.d.). MVK gene: mevalonate kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mvk

Vancouver

Dante Labs. MVK gene: mevalonate kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mvk

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