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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. Additionally we are shipping ETFDH Kits (9) and ETFDH Proteins (4) and many more products for this protein.
Showing 10 out of 80 products:
Human Polyclonal ETFDH Primary Antibody for EIA, WB - ABIN452980
Olsen, Andresen, Christensen, Bross, Skovby, Gregersen: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. in Human mutation 2003
Cow (Bovine) Polyclonal ETFDH Primary Antibody for EIA, WB - ABIN498086
Illig, Gieger, Zhai, Römisch-Margl, Wang-Sattler, Prehn, Altmaier, Kastenmüller, Kato, Mewes, Meitinger, de Angelis, Kronenberg, Soranzo, Wichmann, Spector, Adamski, Suhre: A genome-wide perspective of genetic variation in human metabolism. in Nature genetics 2010
ETFDH mutation is the causative gene in patients with adult-onset multiple acyl-CoA dehydrogenase (show ACADM Antibodies) 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 Antibodies) and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase (show ACADM Antibodies) 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 Antibodies) 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 (show ETFA Antibodies) in southern China, and c.250G>A is an important mutation
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy
3 known (c.250G>A, c380T>A, c.524G>T) and 1 novel (c.1831G>A) ETFDH mutation were detected by high resolution melting analysis. The carrier frequency of the hotspot mutation, c.250G>A, in the Taiwanese population was found to be 1:125.
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.
, electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
, Electron-transferring-flavoprotein dehydrogenase
, ETF dehydrogenase
, ETF-ubiquinone oxidoreductase
, electron transferring flavoprotein dehydrogenase