ETFB
Chr 19ARelectron transfer flavoprotein subunit beta
Also known as: FP585, MADD
The electron transfer flavoprotein beta subunit accepts electrons from multiple mitochondrial dehydrogenases involved in fatty acid oxidation and amino acid metabolism, then transfers them to the main respiratory chain. Mutations cause glutaric acidemia type IIB, an autosomal recessive disorder affecting mitochondrial energy metabolism. The gene shows low constraint to loss-of-function variation (pLI 0.017), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ETFB · 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