MVK
Chr 12ARADmevalonate kinase
Also known as: LRBP, MK, MVLK, POROK3
This gene encodes mevalonate kinase, a peroxisomal enzyme that catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate in isoprenoid and cholesterol biosynthesis. Mutations cause autosomal recessive mevalonic aciduria with early-onset psychomotor retardation, failure to thrive, hepatosplenomegaly, and recurrent fevers, as well as the milder hyper-IgD syndrome with periodic fever episodes, lymphadenopathy, and arthralgia. The gene also causes autosomal dominant porokeratosis, a skin condition with multiple clinical variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MVK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools