Recombinant Human Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (ETFDH)

1. Neurite shortening and impairment in neurite growth was caused by a mutation in ETFDH. PMID: 27935074
2. This study identified three novel compound heterozygous mutations of ETFDH gene in patients with late-onset multiple acyl-CoA dehydrogenase deficiency, and discussed the significant clinical heterogeneity among patients with similar genotype. PMID: 27000805
3. ETFDH mutation is the causative gene in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency with severe sensory neuropathy. PMID: 26821934
4. 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. PMID: 27060313
5. identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence PMID: 24357026
6. Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency. PMID: 25119904
7. 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. PMID: 24123825
8. Case Report: ETF dehydrogenase mutations resulting in mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. PMID: 21088898
9. folding defects in the variant ETF-QO proteins and multiple acyl-CoA dehydrogenation deficiency PMID: 22611163
10. 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 PMID: 21347544
11. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy PMID: 20370797
12. 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. PMID: 20138856
13. lipid storage myopathy caused by ETFDH gene mutations. PMID: 19758981
14. expression from a baculovirus vector and kinetic and spectral characteristics PMID: 12049629
15. Mutations are identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes. PMID: 12359134
16. patients had autosomal recessive mutations in ETFDH, suggesting ETFDH deficiency leads to a secondary CoQ10 deficiency; results indicate that the late-onset form of glutaric aciduria type II & the myopathic form of CoQ10 deficiency are allelic diseases PMID: 17412732
17. study identified ETFDH mutations in all members of a large series of patients with riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency PMID: 17584774
18. We performed mutation analysis in four Taiwanese MADD patients. Three novel ETFDH mutations were identified in four patients and all harbored the p.A84T mutation PMID: 19249206
19. Four novel mutations (3 missenses and 1 deletion) in ETFDH were found in Chinese families that presented with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. PMID: 19265687

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HGNC: 3483

OMIM: 231675

KEGG: hsa:2110

STRING: 9606.ENSP00000426638

UniGene: Hs.155729