Catalog No.
YHH24301
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Arg51-Gly480
Predicted molecular weight
49.87 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q16134
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
ETFDH, ETF-ubiquinone oxidoreductase, Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial, ETF-QO, Electron-transferring-flavoprotein dehydrogenase, ETF dehydrogenase
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland., PMID:40157166
Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD., PMID:40075430
2-[18F] FDG PET/CT in Rapid Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report., PMID:39950184
The whole chromosome-level genome provides resources and insights into the endangered fish Percocypris pingi evolution and conservation., PMID:39627733
Drug risks associated with sarcopenia: a real-world and GWAS study., PMID:39511635
ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway., PMID:39455656
Hypoglycemic drugs, circulating inflammatory proteins, and gallbladder diseases: A mediation mendelian randomization study., PMID:39366640
MADD-like pattern of acylcarnitines associated with sertraline use., PMID:39318848
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency., PMID:39273584
Characterizing mitochondrial features in osteoarthritis through integrative multi-omics and machine learning analysis., PMID:39026663
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases., PMID:38967380
[Analysis of clinical features and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency]., PMID:38946359
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia., PMID:38941880
Electron-transferring flavoprotein and its dehydrogenase contributed to growth development and virulence in Beauveria bassiana., PMID:38788920
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies., PMID:38549004
Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II., PMID:38539320
The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice., PMID:38401771
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis., PMID:38365830
An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis., PMID:38243131
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene., PMID:38228875
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study., PMID:38221620
Genetic prediction of antihyperglycemic drug targets and risk of epilepsy: a mendelian randomisation study., PMID:38167102
Riboflavin-responsive lipid-storage myopathy in elderly patients., PMID:38043332
High-fat diet increases electron transfer flavoprotein synthesis and lipid respiration in skeletal muscle during exercise training in female mice., PMID:37857571
A case report on multiple acyl-CoA dehydrogenase deficiency with severe myopathy and osteoporosis., PMID:37737545
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia., PMID:37510298
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations., PMID:40225143
Protein expression of S100A2 reveals it association with patient prognosis and immune infiltration profile in colorectal cancer., PMID:37476187
Effects of putative metformin targets on phenotypic age and leukocyte telomere length: a mendelian randomisation study using data from the UK Biobank., PMID:37421961
Cardiac Molecular Remodeling by Anticancer Drugs: Doxorubicin Affects More Metabolism While Mitoxantrone Impacts More Autophagy in Adult CD-1 Male Mice., PMID:37371499
Identification of iron metabolism-related predictive markers of endometriosis and endometriosis-relevant ovarian cancer., PMID:37058039
Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi002-A) from a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency., PMID:37019029
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs., PMID:36651276
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency., PMID:36579410
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency., PMID:36334790
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China., PMID:36326420
Generation of a human induced pluripotent stem cell line (LZUSHi002-A) from a MADD patient with ETFDH mutation., PMID:36162333
A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report., PMID:36064718
Pharmacological activation of PPARβ/δ preserves mitochondrial respiratory function in ischemia/reperfusion via stimulation of fatty acid oxidation-linked respiration and PGC-1α/NRF-1 signaling., PMID:36046786
Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency., PMID:35734957
Novel variant of ETFDH leading to multiple acyl-CoA dehydrogenase deficiency by promoting protein degradation via ubiquitin proteasome pathway., PMID:35314173
CEST-2.2 overexpression alters lipid metabolism and extends longevity of mitochondrial mutants., PMID:35297148
Proteomics discovery of protein biomarkers linked to yak meat tenderness as determined by label-free mass spectrometry., PMID:34882917
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency., PMID:34764427
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study., PMID:34718578
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients., PMID:34573316
Mimicking human riboflavin responsive neuromuscular disorders by silencing flad-1 gene in C. elegans: Alteration of vitamin transport and cholinergic transmission., PMID:34558787
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency., PMID:34066864
Riboflavin in Neurological Diseases: A Narrative Review., PMID:33886098
ETF dehydrogenase advances in molecular genetics and impact on treatment., PMID:33823724