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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ETFA
electron transfer flavoprotein subunit alpha
Chromosome 15 Β· 15q24.2-q24.3
NCBI Gene: 2108Ensembl: ENSG00000140374.18HGNC: HGNC:3481UniProt: A0A0S2Z3L0
161PubMed Papers
21Diseases
0Drugs
88Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingelectron transfer activityflavin adenine dinucleotide bindingamino acid catabolic processmultiple acyl-CoA dehydrogenase deficiencyElevated circulating glutaric acid concentrationglutaric aciduriagenetic disorder
✦AI Summary

ETFA (electron transfer flavoprotein subunit alpha) is a mitochondrial matrix protein that functions as a key hub in cellular energy metabolism. As a subunit of the heterodimeric electron transfer flavoprotein complex, ETFA accepts electrons from multiple mitochondrial dehydrogenases involved in fatty acid and amino acid catabolism, including acyl-CoA dehydrogenases and glutaryl-CoA dehydrogenase 1. These electrons are subsequently transferred to the mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase, enabling completion of fatty acid Ξ²-oxidation and amino acid metabolism 1. Beyond canonical metabolic roles, ETFA participates in emerging cellular processes: it facilitates ferroptosis (oxidative cell death) through fatty acid Ξ²-oxidation-dependent mitochondrial reactive oxygen species production 2, and its stabilization by hepatocyte immunoglobulin ΞΊ promotes hepatocellular carcinoma progression through enhanced lipid metabolism 3. Pathologically, ETFA deficiency causes glutaric aciduria type 2A, an inherited metabolic disorder characterized by severe hypoketotic hypoglycemia and acidosis 4. Recently, genetic studies identified elevated ETFA expression as associated with increased schizophrenia risk 5, while paradoxically, ETFA variants show protective effects against dilated cardiomyopathy 6. ETFA also responds to riboflavin supplementation in multiple acyl-CoA dehydrogenase deficiency 1, suggesting therapeutic potential through metabolic cofactor modulation.

Sources cited
1
ETFA accepts electrons from dehydrogenases and transfers them to the respiratory chain; required for fatty acid and amino acid metabolism; responds to riboflavin in mitochondrial diseases
PMID: 33886098
2
ETFA-dependent fatty acid Ξ²-oxidation facilitates ferroptosis through mitochondrial reactive oxygen species production
PMID: 40280135
3
Immunoglobulin ΞΊ stabilizes ETFA protein, promoting hepatocellular carcinoma progression via fatty acid Ξ²-oxidation
PMID: 39380077
4
ETFA deficiency causes glutaric aciduria type II with hypoketotic hypoglycemia and acidosis in neonatal form
PMID: 8617498
5
Increased ETFA levels are associated with elevated schizophrenia risk based on multi-omics Mendelian randomization analysis
PMID: 40180044
6
ETFA variants are associated with decreased risk of dilated cardiomyopathy
PMID: 41467369
Disease Associationsβ“˜21
multiple acyl-CoA dehydrogenase deficiencyOpen Targets
0.84Strong
Elevated circulating glutaric acid concentrationOpen Targets
0.69Moderate
glutaric aciduriaOpen Targets
0.66Moderate
genetic disorderOpen Targets
0.47Moderate
multiple acyl-CoA dehydrogenase deficiency, mild typeOpen Targets
0.37Weak
multiple acyl-CoA dehydrogenase deficiency, severe neonatal typeOpen Targets
0.37Weak
central nervous system cancerOpen Targets
0.35Weak
glutaric acidemia type 3Open Targets
0.34Weak
gliomaOpen Targets
0.28Weak
Meniere diseaseOpen Targets
0.28Weak
Lumbar hyperlordosisOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.18Weak
inflammatory bowel diseaseOpen Targets
0.13Weak
sleep apneaOpen Targets
0.11Weak
meningitisOpen Targets
0.11Weak
breast benign neoplasmOpen Targets
0.10Suggestive
exfoliation syndromeOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
diverticular diseaseOpen Targets
0.09Suggestive
obstructive sleep apneaOpen Targets
0.09Suggestive
Glutaric aciduria 2AUniProt
Pathogenic Variants88
NM_000126.4(ETFA):c.3G>A (p.Met1Ile)Pathogenic
Glutaric acidemia type 2A|Fetal anomalies with a likely genetic cause
β˜…β˜…β˜†β˜†2026β†’ Residue 1
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)Pathogenic
not provided|Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2026β†’ Residue 223
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)Pathogenic
Glutaric acidemia IIa|not provided|Multiple acyl-CoA dehydrogenase deficiency|ETFA-related disorder|Glutaric acidemia type 2A|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 266
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)Pathogenic
not provided|Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2026β†’ Residue 9
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|not provided|Inborn genetic diseases|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 18
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)Likely pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 122
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)Pathogenic
not provided|Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 209
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_000126.4(ETFA):c.625del (p.Arg209fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 209
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 108
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)Likely pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 65
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 67
NM_000126.4(ETFA):c.1A>G (p.Met1Val)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)Likely pathogenic
Glutaric acidemia IIa|Glutaric acidemia type 2A|Multiple acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 116
NM_000126.4(ETFA):c.658_664+3delLikely pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 15
NM_000126.4(ETFA):c.319_322del (p.His107fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2025β†’ Residue 107
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β˜…β˜…β˜†β˜†2024β†’ Residue 232
NM_000126.4(ETFA):c.186+1G>ALikely pathogenic
Multiple acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜†β˜†2024
NM_000126.4(ETFA):c.624del (p.Arg209fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 209
View on ClinVar β†—
Related Genes
PDHBProtein interaction100%NDUFAB1Protein interaction100%ACAD9Protein interaction100%MRPL22Protein interaction100%COX5AProtein interaction100%HADHBProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Heart
97%
Lung
24%
Brain
23%
Ovary
17%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
ETFAPDHBNDUFAB1ACAD9MRPL22COX5AHADHB
PROTEIN STRUCTURE
Preparing viewer…
PDB1EFV Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.17LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.42–1.17]
RankingsWhere ETFA stands among ~20K protein-coding genes
  • #2,790of 20,598
    Most Researched161 Β· top quartile
  • #856of 5,498
    Most Pathogenic Variants88 Β· top quartile
  • #12,191of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedETFA
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Mitochondrial CCN1 drives ferroptosis via fatty acid Ξ²-oxidation.
PMID: 40280135
Dev Cell Β· 2025
0.90
3
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
PMID: 39273584
Int J Mol Sci Β· 2024
0.84
4
Hepatocyte-derived IgΞΊ promotes HCC progression by stabilizing electron transfer flavoprotein subunit Ξ± to facilitate fatty acid Ξ²-oxidation.
PMID: 39380077
J Exp Clin Cancer Res Β· 2024
0.80
5
Genetic insights into the role of mitochondria-related genes in mental disorders: An integrative multi-omics analysis.
PMID: 40180044
J Affect Disord Β· 2025
0.70