IVD
Chr 15ARisovaleryl-CoA dehydrogenase
Also known as: ACAD2, IVDH
Isovaleryl-CoA dehydrogenase catalyzes the third step in leucine catabolism within the mitochondrial matrix. Mutations cause isovaleric acidemia, an autosomal recessive disorder characterized by accumulation of toxic isovaleric acid that damages the central nervous system. The pathogenic mechanism involves loss of enzyme function leading to substrate accumulation and metabolic toxicity.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IVD · 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
Pivotal, Clinical Study for the Accuracy Evaluation of the IdentiClone Dx TRG Assay
NOT YET RECRUITINGPhase 2a Trial to Evaluate Safety and Immunogenicity of COVID-19 Vaccine Strategies in HIV-infected/Uninfected Adults.
ACTIVE NOT RECRUITINGDHF-20-1839-2: Clinical Performance Study Protocol for Therascreen® KRAS RGQ PCR Kit
RECRUITINGPrecision Oncology Clinical Diagnostic Study In Primary and Metastatic Breast Cancer (PRISM)
RECRUITINGA Study to Evaluate the Safety and Efficacy of A2B395, an Allogeneic Logic-gated CAR T, in Participants With Solid Tumors That Express EGFR and Have Lost HLA-A*02 Expression
RECRUITINGNext Generation Sequencing Method for the Detection of EGFR Gene Mutations in the Plasma of Patients With Lung Cancer
ACTIVE NOT RECRUITINGA Study to Evaluate the Safety and Efficacy of Mesothelin-Targeting Logic-gated CAR T, in Participants With Solid Tumors That Express MSLN and Have Lost HLA-A*02 Expression
RECRUITINGExternal Resources
Links to major genomics databases and tools