ETFDH
Chr 4ARelectron transfer flavoprotein dehydrogenase
Also known as: ETFQO, MADD
The protein accepts electrons from electron transfer flavoprotein (ETF) and reduces ubiquinone in the mitochondrial respiratory chain. Mutations cause glutaric acidemia IIC, an autosomal recessive disorder of fatty acid oxidation. Loss of function mutations disrupt the electron transport chain, leading to impaired fatty acid beta-oxidation and accumulation of organic acids.
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
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ETFDH · 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