ETFDH

Chr 4AR

electron transfer flavoprotein dehydrogenase

Also known as: ETFQO, MADD

NCBI Gene: 2110 ENSG00000171503 UniProt: Q16134 OMIM: 231675

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.

GeneReviews OMIM ResearchSummary from OMIM, UniProt

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Glutaric acidemia IICMIM #231680

UniProtGlutaric aciduria 2C

Clinical highlights

Gene-disease validity (ClinGen)

multiple acyl-CoA dehydrogenase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.04

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ETFDH