AlphaFold predicted structure
ETFB · P38117
Mean pLDDT
96.1/ 100
Very high
255 residues
Confidence breakdown
- Very high(≥ 90)95%
- Confident(70–90)4%
- Low(50–70)0%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ETFB
Chr 19q13.41electron transfer flavoprotein subunit beta
- MANE:
- ENST00000309244.9
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
0.68glutaric aciduria
0.66multiple acyl-CoA dehydrogenase deficiency, mild type
0.37multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
0.37hereditary disease
0.19chronic kidney disease
0.12glutaric acidemia IIc
0.12acute myeloid leukemia
0.09retinitis pigmentosa
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Electron transfer flavoprotein subunit beta
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:15159392, PubMed:15975918, PubMed:25416781). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP molecule that probably has a purely structural role (PubMed:15159392, PubMed:15975918, PubMed:8962055)