ETFB: Electron Transfer Flavoprotein Beta Subunit
Essential component of the mitochondrial electron transfer flavoprotein complex involved in fatty acid and amino acid oxidation
Gene Information Card
| Symbol | ETFB |
|---|---|
| Full Name | Electron Transfer Flavoprotein Beta Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 2109 ncbi.nlm.nih.gov/gene/2109 |
| Ensembl ID | ENSG00000105379 |
| UniProt ID | P38117 |
| OMIM ID | 130410 |
| HGNC ID | 3480 |
| Aliases | MADD, GA2, ETF-beta |
Description
The ETFB gene encodes the beta subunit of the electron transfer flavoprotein (ETF), a heterodimeric mitochondrial protein that accepts electrons from multiple mitochondrial dehydrogenases involved in fatty acid beta-oxidation, amino acid catabolism, and choline metabolism. ETF transfers electrons to the main respiratory chain via ETF-ubiquinone oxidoreductase (ETFDH). Mutations in ETFB cause multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple acyl-CoA dehydrogenase deficiency (MADD) | Impaired electron transfer from flavoprotein dehydrogenases to ETF leads to accumulation of acyl-CoA intermediates and organic acids | ClinVar, OMIM |
| Glutaric acidemia type II | Defective ETF beta subunit disrupts electron flow, causing metabolic acidosis, hypoglycemia, and lipid storage myopathy | OMIM |
| Lipid storage myopathy | ETF deficiency impairs fatty acid oxidation, leading to intramuscular lipid accumulation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Heart | 10.8 | High |
| Skeletal muscle | 9.2 | High |
| Kidney | 8.1 | Medium |
| Brain | 6.3 | Medium |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocyte line |
| K-562 | 9.8 | Lymphoblast |
| HeLa | 7.5 | Cervical carcinoma |
| A549 | 6.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.250G>A (p.Gly84Arg) | Missense | Common | Reduced ETF stability and electron transfer activity |
| c.380C>T (p.Pro127Leu) | Missense | Rare | Impaired dimerization with ETFA |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of translation initiation |
| c.458_459delAG (p.Glu153Glyfs*12) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ETFB mutations cause loss of function by disrupting protein folding, dimerization, or electron transfer, leading to MADD.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; ETFB deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Electron transfer activity | • Flavin adenine dinucleotide binding |
| • Mitochondrial electron transport | • Fatty acid beta-oxidation |
| • Protein heterodimerization |
Pathways
• Mitochondrial fatty acid beta-oxidation
• Electron transport chain (ETF to ubiquinone)
• Branched-chain amino acid catabolism
• Lysine degradation
Protein Summary
ETFB is the beta subunit of the electron transfer flavoprotein (ETF), a heterodimer located in the mitochondrial matrix. The beta subunit (30.8 kDa) contains a flavin adenine dinucleotide (FAD) binding domain and is essential for accepting electrons from at least 12 mitochondrial flavoprotein dehydrogenases. ETF then transfers electrons to ETFDH, which reduces coenzyme Q in the respiratory chain. Defects in ETFB impair this electron relay, causing multiple acyl-CoA dehydrogenase deficiency (MADD), a disorder of fatty acid and amino acid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETFBKMT Knockout HEK293 Cell Line | EDJ-KQ11751 | Human | 254013 | Details Get a Quote |
| ETFBKMT Knockout A-549 Cell Line | EDJ-KQ40135 | Human | 254013 | Details Get a Quote |
| ETFBKMT Knockout HCT 116 Cell Line | EDJ-KQ40136 | Human | 254013 | Details Get a Quote |
| ETFB Knockout HEK293 Cell Line | EDJ-KQ50260 | Human | 2109 | Details Get a Quote |
| ETFB Knockout HeLa Cell Line | EDJ-KQ53178 | Human | 2109 | Details Get a Quote |
| ETFBKMT Knockout HeLa Cell Line | EDJ-KQ59247 | Human | 254013 | Details Get a Quote |
| ETFB Knockout A-549 Cell Line | EDJ-KQ61658 | Human | 2109 | Details Get a Quote |
| ETFB Knockout HCT 116 Cell Line | EDJ-KQ70139 | Human | 2109 | Details Get a Quote |
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