ETFB information

ETFB
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1EFV, 1T9G, 2A1T, 2A1U
Identifiers
Aliases	ETFB, MADD, FP585, electron transfer flavoprotein beta subunit, electron transfer flavoprotein subunit beta
External IDs	OMIM: 130410; MGI: 106098; HomoloGene: 1503; GeneCards: ETFB; OMA:ETFB - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	51,366,388 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	43,107,224 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; right lobe of liver; ; left ventricle; ; right auricle; ; right adrenal gland; ; left adrenal gland; ; right adrenal cortex; ; mucosa of transverse colon; ; left adrenal cortex; ; C1 segment;
	Top expressed in
	proximal tubule; ; right kidney; ; human kidney; ; heart; ; lens; ; blastocyst; ; white adipose tissue; ; muscle tissue; ; skeletal muscle tissue; ; muscle of thigh;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	electron transfer activity; protein binding;
Cellular component	mitochondrial matrix; cytosol; mitochondrion;
Biological process	fatty acid beta-oxidation using acyl-CoA dehydrogenase; electron transport chain; respiratory electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	2109
	110826
	ENSG00000105379
	ENSMUSG00000004610
	P38117
	Q9DCW4
	NM_001985; NM_001014763
	NM_026695
	NP_001014763; NP_001976
	NP_080971
	Wikidata
View/Edit Human	View/Edit Mouse

The human ETFB gene encodes the Electron-transfer-flavoprotein, beta subunit, also known as ETF-β.^[5] 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.^[6]^[7]

First reports on the ETF protein were based on ETF isolated from porcine liver.^[8] 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.^[9] 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),^[10] earlier called glutaric acidemia type II. MADD is characterized by excretion of a series of substrates of the upstream flavoenzyes, e.g. glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105379 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004610 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: ETFB electron-transfer-flavoprotein, beta polypeptide (glutaric aciduria II)".
^ Sato K, Nishina Y, Shiga K (August 1993). "Electron-transferring flavoprotein has an AMP-binding site in addition to the FAD-binding site". Journal of Biochemistry. 114 (2): 215–22. doi:10.1093/oxfordjournals.jbchem.a124157. PMID 8262902.
^ Husain M, Steenkamp DJ (February 1983). "Electron transfer flavoprotein from pig liver mitochondria. A simple purification and re-evaluation of some of the molecular properties". The Biochemical Journal. 209 (2): 541–5. doi:10.1042/bj2090541. PMC 1154123. PMID 6847633.
^ Crane FL, Beinert H (September 1954). "A Link Between Fatty Acyl CoA Dehydrogenase and Cytochrome C: A New Flavin Enzyme". Journal of the American Chemical Society. 76 (17): 4491. doi:10.1021/ja01646a076.
^ Ruzicka FJ, Beinert H (December 1977). "A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway". The Journal of Biological Chemistry. 252 (23): 8440–5. doi:10.1016/S0021-9258(19)75238-7. PMID 925004.
^ "OMIM Entry - # 231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD". www.omim.org.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000105379 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000004610 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: ETFB electron-transfer-flavoprotein, beta polypeptide (glutaric aciduria II)".

[Electron-transferring_flavoprotein-6] Sato K, Nishina Y, Shiga K (August 1993). "Electron-transferring flavoprotein has an AMP-binding site in addition to the FAD-binding site". Journal of Biochemistry. 114 (2): 215–22. doi:10.1093/oxfordjournals.jbchem.a124157. PMID 8262902.

[7] Husain M, Steenkamp DJ (February 1983). "Electron transfer flavoprotein from pig liver mitochondria. A simple purification and re-evaluation of some of the molecular properties". The Biochemical Journal. 209 (2): 541–5. doi:10.1042/bj2090541. PMC 1154123. PMID 6847633.

[8] Crane FL, Beinert H (September 1954). "A Link Between Fatty Acyl CoA Dehydrogenase and Cytochrome C: A New Flavin Enzyme". Journal of the American Chemical Society. 76 (17): 4491. doi:10.1021/ja01646a076.

[A_new_iron-sulfur_flavoprotein_of_t-9] Ruzicka FJ, Beinert H (December 1977). "A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway". The Journal of Biological Chemistry. 252 (23): 8440–5. doi:10.1016/S0021-9258(19)75238-7. PMID 925004.

[10] "OMIM Entry - # 231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD". www.omim.org.

ETFB information

and 8 Related for: ETFB information

ETFB

Glutaric acidemia type 2

List of genetic disorders

ETFA

ETFDH

FASTKD3

List of OMIM disorder codes

LIM2