| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| Fibroblasts from two other patients with severe GA 2 had normal levels of ETF QO activity and antigen but were deficient in immunoreactive ETF . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| Multiple acyl CoA dehydrogenase deficiency ( MADD ) or glutaric aciduria type 2 ( GAII ) are a group of metabolic disorders due to deficiency of either electron transfer flavoprotein ( ETF ) or electron transfer flavoprotein ubiquinone oxidoreductase ( ETF QO ) . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVES : Multiple acyl CoA dehydrogenation deficiency ( MADD ) is a clinically heterogeneous disorder of mitochondrial fatty acid , amino acid , and choline oxidation due to mutations in the genes encoding electron transfer flavoprotein ( ETF ) or ETF ubiquinone oxidoreductase ( ETFQO ) . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| Multiple acyl CoA dehydrogenase deficiency ( MADD ) is a recessively inherited metabolic disorder that can be due to a deficiency of electron transfer flavoprotein ( ETF ) or its dehydrogenase ( ETF ubiquinone oxidoreductase ) . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| Assignment of Etfdh , Etfb , and Etfa to chromosomes 3 , 7 , and 13 : the mouse homologs of genes responsible for glutaric acidemia type 2 in human . ^^^ We used cDNA probes for the Etfdh , Etfb , and Etfa genes to determine localization of these mouse genes to chromosomes 3 , 7 , and 13 . . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| GA 2 has been attributed to a defect of either ETF or ETF dehydrogenase , resulting in multiple acyl CoA dehydrogenation deficiency . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| GAII is caused by defects in intra mitochondrial acyl CoA dehydrogenation due to deficiency in one of three molecules : the alpha or beta subunits of the electron transport flavoprotein ( ETFA ; OMIM 231680 , ETFB ; OMIM 130410 ) , or ETF dehydrogenase ( ETFDH ; OMIM 231675 ) . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| We report the genomic structures of the ETFA , ETFB , and ETFDH genes and the identification and characterization of seven novel and three previously reported disease causing mutations . ^^^ Mutations in electron transfer flavoprotein ( ETF ) and its dehydrogenase ( ETFDH ) are the molecular basis of multiple acyl CoA dehydrogenation deficiency ( MADD ) , an autosomal recessively inherited and clinically heterogeneous disease that has been divided into three clinical forms : a neonatal onset form with congenital anomalies ( type 1 ) , a neonatal onset form without congenital anomalies ( type 2 ) , and a late onset form ( type 3 ) . ^^^ To examine whether these different clinical forms could be explained by different ETF / ETFDH mutations that result in different levels of residual ETF / ETFDH enzyme activity , we have investigated the molecular genetic basis for disease development in nine patients representing the phenotypic spectrum of MADD . ^^^ This indicates that the effect of the ETF / ETFDH genotype in patients with milder forms of MADD , in whom residual enzyme activity allows modulation of the enzymatic phenotype , may be influenced by environmental factors like cellular temperature . . ^^^ |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q16134 and P13804 |
Pubmed |
SVM Score :0.0 |
| NA |
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