HADHA
Chr 2ARhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Also known as: ECHA, GBP, LCEH, LCHAD, MLCL AT, MTPA, TP-ALPHA
The protein catalyzes 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities as the alpha subunit of mitochondrial trifunctional protein, which performs the last three steps of beta-oxidation of long chain fatty acids. Autosomal recessive mutations cause LCHAD deficiency or mitochondrial trifunctional protein deficiency through loss of function. Maternal carriers may develop acute fatty liver of pregnancy or HELLP syndrome.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
500 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 | 29 | 0 | 8 | 0 | 37 |
Likely Pathogenic | 43 | 4 | 2 | 0 | 49 |
VUS | 1 | 115 | 13 | 9 | 138 |
Likely Benign | 0 | 2 | 140 | 110 | 252 |
Benign | 0 | 0 | 2 | 0 | 2 |
Conflicting | — | 2 | |||
| Total | 73 | 121 | 165 | 119 | 480 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HADHA · 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