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Neurite shortening and impairment in neurite growth was caused by a mutation in ETFDH.
This study identified three novel compound heterozygous mutations of ETFDH gene in patients with late-onset multiple acyl-CoA dehydrogenase (show ACADM Proteins) deficiency, and discussed the significant clinical heterogeneity among patients with similar genotype.
ETFDH mutation is the causative gene in patients with adult-onset multiple acyl-CoA dehydrogenase (show ACADM Proteins) deficiency with severe sensory neuropathy.
Mtation c.250G>A and mutation c.353G>T in the ETFDH gene are associate with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver.
identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence
Mutations in SLC22A5 (show SLC22A5 Proteins) and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase (show ACADM Proteins) deficiency.
Results show that a predicted benign ETFDH missense variationc.158A>G in exon 2 causes exon skipping and degradation of ETFDH protein in patient samples.
Case Report: ETF dehydrogenase mutations resulting in mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
folding defects in the variant ETF-QO proteins and multiple acyl-CoA (show GNPAT Proteins) dehydrogenation deficiency
a significant reduced expression of ETFDH was identified in the muscle of ETFDH-deficient patients; ETFDH deficiency is a major cause of riboflavin-responsive MADD in southern China, and c.250G>A is an important mutation
Data indicate that the iron-sulfur cluster of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is the electron acceptor for electron transfer flavoprotein (show ETFB Proteins).
Studies indicate that ETF-QO to be a monotopic membrane protein with the cofactors, FAD (show PSEN1 Proteins) and a [4Fe-4S](+1+2) cluster, suggesting that it is the flavin that serves as the immediate reductant of ubiquinone.
Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaricacidemia.
, ETF-ubiquinone oxidoreductase
, electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
, electron-transferring-flavoprotein dehydrogenase
, electron transferring flavoprotein dehydrogenase
, Electron-transferring-flavoprotein dehydrogenase
, Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
, LOW QUALITY PROTEIN: electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial