ETFA Chromosome 15
Electron transfer flavoprotein subunit alpha
Upload your DNA to see your personal genotypes for variants in ETFA.
What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
15q24.2-q24.3
Ensembl
ENSG00000140374
Associated Conditions (5)
Multiple acyl-CoA dehydrogenase deficiency
ETFA-related disorder
Glutaric acidemia type 2A
Glutaric acidemia IIa
Inborn genetic diseases
Key Variants
RS140169311
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS141200145
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS184587113
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS199673198
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS2039064081
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS2039718120
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS2039773989
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS370375322
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS377259058
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS546128998
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS557160401
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS727503918
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140169311 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS141200145 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS184587113 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A, Multiple acyl-CoA dehydrogenase deficiency |
| RS199673198 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A, Multiple acyl-CoA dehydrogenase deficiency |
| RS2039064081 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2039718120 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2039773989 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS370375322 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS377259058 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS546128998 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS557160401 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS727503918 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS746488455 | Health Risk | Conflicting classifications of pathogenicity | Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIa |
| RS749455172 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS749929239 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A, Multiple acyl-CoA dehydrogenase deficiency |
| RS753363278 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756864231 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS773298687 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS779140971 | Health Risk | Conflicting classifications of pathogenicity | Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIa |
| RS972293793 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS119458971 | Health Risk | Likely pathogenic | Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIa |
| RS1239955378 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1297718024 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1475984278 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1567218409 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2038999395 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2039698086 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2039718061 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2141531787 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2141543695 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2542969762 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543011277 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543011317 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543020037 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543020089 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543022168 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543022225 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543022245 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543023523 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025165 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025247 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025251 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032159 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032160 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032349 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032494 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032548 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032565 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543051746 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS754443484 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |