Free for academic non-profit institutions. Other users need a Commercial license
ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ETFA (Electron Transfer Flavoprotein Subunit Alpha) is a Protein Coding gene. Diseases associated with ETFA include Multiple Acyl-Coa Dehydrogenase Deficiency and Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 24606901 |
GO:0009055 | electron transfer activity | IEA,IDA | 10423253 |
GO:0016491 | oxidoreductase activity | IBA,IDA | 9334218 |
GO:0050660 | flavin adenine dinucleotide binding | IEA,IDA | 9334218 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
2 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0022900 | electron transport chain | IEA | -- |
GO:0022904 | respiratory electron transport chain | TAS | -- |
GO:0033539 | fatty acid beta-oxidation using acyl-CoA dehydrogenase | IBA,IDA | 25416781 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
FAD | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ETFA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ETFA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ETFA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Etfa 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Etfa 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ETFA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ETFA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ETFA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | etfa 30 |
|
||
Str.3137 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24246 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | etfa 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9018 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | wal 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004031 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_F27D4.1 30 |
|
||
F27D4.1 31 |
|
OneToOne | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E14037g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AIM45 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL054W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ETFALPHA 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.11363 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0835400 30 |
|
||
Os.14084 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.4786 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.7134 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.9255 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8750 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08004 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC27D7.06 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2139 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641837 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,286,424(-) | C/T | MISSENSE_VARIANT | |
644693 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,231,327(-) | A/C | INTRON_VARIANT | |
648977 | Pathogenic: Multiple acyl-CoA dehydrogenase deficiency | 76,285,676(-) | GA/G | FRAMESHIFT_VARIANT | |
653627 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,295,696(-) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
665820 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,295,714(-) | A/C | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1180027 | CNV | insertion | 17803354 |
esv2749895 | CNV | deletion | 23290073 |
esv2749898 | CNV | deletion | 23290073 |
esv3581766 | CNV | loss | 25503493 |
nsv1116463 | OTHER | inversion | 24896259 |
nsv1128727 | CNV | duplication | 24896259 |
nsv1618 | CNV | insertion | 18451855 |
nsv520069 | CNV | loss | 19592680 |
nsv527608 | CNV | loss | 19592680 |
nsv569998 | CNV | gain | 21841781 |
nsv833057 | CNV | loss | 17160897 |
nsv958019 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple acyl-coa dehydrogenase deficiency |
|
|
multiple acyl-coa dehydrogenase deficiency, mild type |
|
|
multiple acyl-coa dehydrogenase deficiency, severe neonatal type |
|
|
acyl-coa dehydrogenase deficiency |
|
|
riboflavin deficiency |
|
|