ETFB
Sign in to saveAlso known as MADD, FP585, electron transfer flavoprotein beta subunit, electron transfer flavoprotein subunit beta
The human ETFB gene encodes the Electron-transfer-flavoprotein, beta subunit, also known as ETF-β. Together with Electron-transfer-flavoprotein, alpha subunit, encoded by the 'ETFA' gene, it forms the heterodimeric Electron transfer flavoprotein (ETF). The native ETF protein contains one molecule of FAD and one molecule of AMP, respectively.
Gene data
ETFB- Name
- electron transfer flavoprotein subunit beta
- Type
- protein-coding
- Position
- 51,345,161–51,366,449 (−)
- Aliases
- FP585, MADD
- Ensembl
- ENSG00000105379
- RefSeq RNA
- NM_001014763.1, NM_001985.3, XM_024451418.2, XM_054320189.1
- RefSeq protein
- NP_001014763.1, NP_001976.1, XP_024307186.1, XP_054176164.1
This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
electron transfer flavoprotein subunit beta
- Symbol
- ETFB
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:51,345,161-51,366,449
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ETFB PDB 1efv.png
Show 5 more facts
- HomoloGene ID
- 1503
- exact match
- identifiers.org/ncbigene/2109
- genomic end
- 51366388
- genomic start
- 51848423
- cytogenetic location
- 19q13.41
via Wikidata · CC0
~6 min read
Article
9 sectionsContents
- Evolutionary relationships
- Gene, expression, and subcellular localization
- Posttranslational modifications and regulation
- Structure and interaction with redox partners
- Molecular Function
- Genetic deficiencies and molecular pathogenesis
- Notes
- References
- Further reading
The human ETFB gene encodes the Electron-transfer-flavoprotein, beta subunit, also known as ETF-β. Together with Electron-transfer-flavoprotein, alpha subunit, encoded by the 'ETFA' gene, it forms the heterodimeric Electron transfer flavoprotein (ETF). The native ETF protein contains one molecule of FAD and one molecule of AMP, respectively.
First reports on the ETF protein were based on ETF isolated from porcine liver. Porcine and human ETF transfer electrons from mitochondrial matrix flavoenzymes to Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) encoded by the ETFDH gene. ETF-QO subsequently relays the electrons via ubiquinone to complex III in the respiratory chain. The flavoenzymes that transfer electrons to ETF are involved in fatty acid beta oxidation, amino acid catabolism, choline metabolism, and special metabolic pathways. Defects in either of the ETF subunits or ETFDH cause multiple acyl CoA dehydrogenase deficiency (OMIM # 231680), earlier called glutaric acidemia type II. MADD is characterized by excretion of a series of substrates of the upstream flavoenzymes, e.g. glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.