HADHB
Chr 2ARhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Also known as: ECHB, MSTP029, MTPB, MTPD, MTPD2, TP-BETA
The beta subunit of mitochondrial trifunctional protein catalyzes 3-ketoacyl-CoA thiolase activity in the final three steps of long-chain fatty acid beta-oxidation and also functions as an RNA-binding protein that destabilizes certain mRNAs. Autosomal recessive mutations cause mitochondrial trifunctional protein deficiency, a disorder of fatty acid oxidation. The pathogenic mechanism involves dominant-negative effects where mutant protein disrupts normal enzyme function.
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
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
HADHB · 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