AtlasGene
ETFDH
electron transfer flavoprotein dehydrogenase
- HGNC 3483↗(opens in a new tab)
- Ensembl gene ENSG00000171503↗(opens in a new tab)
- NCBI Gene 2110↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q32.1
- Coordinates
- Chromosome 4: 158,672,296–158,709,623 (GRCh38)
- Exons
- 13 exons across 37.3 kb
- Protein
- 617 amino acids
- Also known as
- ETFQO
- MANE Select transcript
- ENST00000511912.6NM_004453.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
Fatty Acid Oxidation & Carnitine Cycle Disorders
- Disorders of Fatty Acid Oxidation and KetogenesisAutosomal recessive
A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
▶Actionability
Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
▶Actionability
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
How ETFDH is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.1 kb of the gene's 37.3 kb; 1,854 of those bases code for the protein.
Sequencing ETFDH
1Low
How hard ETFDH is to sequence with short reads, out of 100Each bar is the share of ETFDH's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.1.7%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.6.3%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
267
positions in ETFDH where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 37.3 kb of ETFDH, introns included, not only the 3.1 kb of exons.
Genes linked to the same conditions
- ACADVLacyl-CoA dehydrogenase very long chainShares 2 conditions
- ETFAelectron transfer flavoprotein subunit alphaShares 2 conditions
- ETFBelectron transfer flavoprotein subunit betaShares 2 conditions
- HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alphaShares 2 conditions
- ACAD9acyl-CoA dehydrogenase family member 9Shares 1 condition
- ACADMacyl-CoA dehydrogenase medium chainShares 1 condition
- ACADSacyl-CoA dehydrogenase short chainShares 1 condition
- ACTC1actin alpha cardiac muscle 1Shares 1 condition
- ALPK3alpha kinase 3Shares 1 condition
- BRAFB-Raf proto-oncogene, serine/threonine kinaseShares 1 condition
- CDKN1Ccyclin dependent kinase inhibitor 1CShares 1 condition
- CSRP3cysteine and glycine rich protein 3Shares 1 condition
Traits linked to ETFDH
The Human Phenotype Ontology lists these as features of the rare conditions ETFDH can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ETFDH gene: electron transfer flavoprotein dehydrogenase. Retrieved 17 October 2026, from https://dantelabs.com/genes/etfdh
Dante Labs. ETFDH gene: electron transfer flavoprotein dehydrogenase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/etfdh
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