ETFA
Chr 15ARelectron transfer flavoprotein subunit alpha
Also known as: EMA, GA2, MADD
The ETFA protein forms part of the electron transfer flavoprotein complex that accepts electrons from multiple mitochondrial dehydrogenases and transfers them to the respiratory chain, playing an essential role in fatty acid oxidation and amino acid metabolism. Biallelic mutations cause glutaric acidemia type IIA, an autosomal recessive disorder affecting mitochondrial energy metabolism. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.68), and affected individuals typically present with metabolic acidosis and distinctive organic acid profiles.
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
200 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 | 5 | 0 | 5 | 0 | 10 |
Likely Pathogenic | 26 | 2 | 1 | 0 | 29 |
VUS | 0 | 49 | 10 | 0 | 59 |
Likely Benign | 0 | 0 | 49 | 47 | 96 |
Benign | 0 | 0 | 3 | 0 | 3 |
Conflicting | — | 3 | |||
| Total | 31 | 51 | 68 | 47 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ETFA · 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