ACO2
Chr 22ARADaconitase 2
Also known as: ACONM, HEL-S-284, ICRD, OCA8, OPA9
The protein is a mitochondrial enzyme that catalyzes the conversion of citrate to isocitrate in the TCA cycle, essential for cellular energy production. Mutations cause infantile cerebellar-retinal degeneration and optic atrophy 9, affecting the central nervous system and visual system with early onset manifestations. The gene follows both autosomal recessive and autosomal dominant inheritance patterns and shows moderate constraint against loss-of-function variants (LOEUF 0.417).
Strong evidence — appropriate for clinical testing
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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
ACO2 · 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