AlphaFold predicted structure
ETFA · P13804
Mean pLDDT
94.1/ 100
Very high
333 residues
Confidence breakdown
- Very high(≥ 90)91%
- Confident(70–90)4%
- Low(50–70)2%
- Very low(< 50)4%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ETFA
Chr 15q24.2-q24.3electron transfer flavoprotein subunit alpha
- Aliases:
- GA2, EMA, MADD
- MANE:
- ENST00000557943.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHyperammonaemia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalRhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
multiple acyl-CoA dehydrogenase deficiency
0.83Elevated circulating glutaric acid concentration
0.69glutaric aciduria
0.66hereditary disease
0.47multiple acyl-CoA dehydrogenase deficiency, mild type
0.37multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
0.37central nervous system cancer
0.36glutaric acidemia type 3
0.34glioma
0.28Meniere disease
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Electron transfer flavoprotein subunit alpha, mitochondrial
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed:27499296, PubMed:9334218). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1430199, PubMed:1882842)
Diseases associated with ETFA
Curated MONDO disease pages that list ETFA among their top associated genes.