FAHD1
Chr 16fumarylacetoacetate hydrolase domain containing 1
Also known as: C16orf36, ODx, YISKL
The FAHD1 protein functions as a tautomerase that converts inhibitory enol-oxaloacetate to keto-oxaloacetate, preventing succinate dehydrogenase inhibition and maximizing aerobic respiration efficiency, and also acts as a weak oxaloacetase in the TCA cycle. Biallelic mutations cause autosomal recessive early-onset mitochondrial encephalomyopathy with lactic acidosis. The gene shows very low constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
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
134 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 38 | 1 | 41 |
Likely Pathogenic | 2 | 0 | 1 | 0 | 3 |
VUS | 0 | 60 | 18 | 0 | 78 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 4 | 61 | 58 | 1 | 124 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAHD1 · 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