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Aperçu des produits pour anti-ETFDH (ETFDH) Anticorps

Full name:: anti-Electron-Transferring-Flavoprotein Dehydrogenase Anticorps (ETFDH)

Chez www.anticorps-enligne.fr sont 102 Electron-Transferring-Flavoprotein Dehydrogenase (ETFDH) Anticorps de 22 de différents fournisseurs disponibles. De plus, nous expédions ETFDH Kits (9) et ETFDH Protéines (5) et beaucoup plus de produits pour cette protéine. Un total de 120 ETFDH produits sont actuellement listés.

Synonymes:: 0610010I20Rik, AV001013, DDBDRAFT_0206234, DDBDRAFT_0267019, DDB_0206234, DDB_0267019, ETF-QO, ETFQO, MADD, MGC69479, MGC81928, wu:fa05a11, wu:fb71g06, zgc:92093

afficher tous les anticorps	Gène	GeneID	UniProt
	ETFDH	2110	Q16134
	ETFDH	66841	Q921G7
	ETFDH	295143
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anti-Human ETFDH Anticorps:

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Pathways pertinentes pour anti-ETFDH Anticorps

Monocarboxylic Acid Catabolic Process

Plus produit pour ETFDH Anticorps

anti-ETFDH Anticorps mieux référencés

Human Polyclonal ETFDH Primary Antibody pour WB - ABIN6679927 : Qiu, Liu, Cheng, Wang, Jing, Pei, Zhao, Wang, Guo, Zhang: Impaired Autophagy and Defective T Cell Homeostasis in Mice with T Cell-Specific Deletion of Receptor for Activated C Kinase 1. dans Frontiers in immunology 2017 (PubMed)
Human Polyclonal ETFDH Primary Antibody pour ELISA, WB - ABIN4309655 : 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. dans Nature genetics 2010 (PubMed)

Plus d’anticorps contre ETFDH partenaires d’interaction

Human Electron-Transferring-Flavoprotein Dehydrogenase (ETFDH) interaction partners

Mutations of the ETFDH gene probably underlie the pathogenesis of lipid storage myopathy in this family
Multiple acyl-CoA dehydrogenase deficiency is cause by electron transfer flavoprotein ubiquinone oxidoreductase mutation at heterozygotes with c.1354A>G (p.Arg452Gly) and exon 7-8 deletion for Patient 1, and with c.831+3A>C and exon 1-7 deletion for Patient 2.
This case report extends the spectrum of ETFDH mutations in multiple acyl-CoA dehydrogenase deficiency (MADD), providing further evidence that patients presenting at least one missense mutation in the FAD-binding domain may respond to either carnitine or riboflavin treatment, due to the recovery of some enzymatic activity.
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 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 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 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase 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 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
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.
lipid storage myopathy caused by ETFDH gene mutations.
expression from a baculovirus vector and kinetic and spectral characteristics
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.
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
study identified ETFDH mutations in all members of a large series of patients with riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Pig (Porcine) Electron-Transferring-Flavoprotein Dehydrogenase (ETFDH) interaction partners

Data indicate that the iron-sulfur cluster of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is the electron acceptor for electron transfer flavoprotein.
Studies indicate that ETF-QO to be a monotopic membrane protein with the cofactors, FAD and a [4Fe-4S](+1+2) cluster, suggesting that it is the flavin that serves as the immediate reductant of ubiquinone.

ETFDH profil antigène

Antigen Summary

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.

Alternative names and synonyms associated with ETFDH

electron transfer flavoprotein dehydrogenase (ETFDH) anticorps
electron transferring flavoprotein, dehydrogenase (Etfdh) anticorps
electron transfer flavoprotein dehydrogenase (Etfdh) anticorps
electron transfer flavoprotein dehydrogenase L homeolog (etfdh.L) anticorps
electron-transferring-flavoprotein dehydrogenase (etfdh) anticorps
electron transfer flavoprotein dehydrogenase (etfdh) anticorps
electron transfer flavoprotein-ubiquinone oxidoreductase (CBU_1120) anticorps
electron-transferring-flavoprotein dehydrogenase (ZMO1184) anticorps
electron-transferring-flavoprotein dehydrogenase (RPE_4421) anticorps
electron-transferring-flavoprotein dehydrogenase (Daci_4310) anticorps
electron-transferring-flavoprotein dehydrogenase (Bphyt_2765) anticorps
electron-transferring-flavoprotein dehydrogenase (Dtpsy_1751) anticorps
Electron-transferring-flavoprotein dehydrogenase (Za10_0145) anticorps
electron transfer flavoprotein-ubiquinone oxidoreductase (etfdh) anticorps
Electron-transferring-flavoprotein dehydrogenase (Mesop_5359) anticorps

0610010I20Rik anticorps
AV001013 anticorps
DDBDRAFT_0206234 anticorps
DDBDRAFT_0267019 anticorps
DDB_0206234 anticorps
DDB_0267019 anticorps
ETF-QO anticorps
ETFQO anticorps
MADD anticorps
MGC69479 anticorps
MGC81928 anticorps
wu:fa05a11 anticorps
wu:fb71g06 anticorps
zgc:92093 anticorps

Protein level used designations for ETFDH

ETF dehydrogenase , ETF-QO , ETF-ubiquinone oxidoreductase , electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial , electron-transferring-flavoprotein dehydrogenase , electron transferring flavoprotein dehydrogenase , xav , xavier , fa05a11 , fb71g06 , Electron-transferring-flavoprotein dehydrogenase , Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial , LOW QUALITY PROTEIN: electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

GENE ID	SPECIES
2110	Homo sapiens
66841	Mus musculus
295143	Rattus norvegicus
768074	Bos taurus
100171973	Pongo abelii
447730	Xenopus laevis
447859	Danio rerio
448088	Xenopus (Silurana) tropicalis
1209022	Coxiella burnetii RSA 493
3189205	Zymomonas mobilis subsp. mobilis ZM4 = ATCC 31821
4362121	Rhodopseudomonas palustris BisA53
5749898	Delftia acidovorans SPH-1
6284741	Burkholderia phytofirmans PsJN
7385315	Acidovorax ebreus TPSY
8471225	Zymomonas mobilis subsp. mobilis NCIMB 11163
8621736	Dictyostelium discoideum AX4
10829222	Mesorhizobium opportunistum WSM2075
475480	Canis lupus familiaris
428724	Gallus gallus
100340346	Oryctolagus cuniculus
100515785	Sus scrofa
100729397	Cavia porcellus

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Show all anti-Electron-Transferring-Flavoprotein Dehydrogenase (ETFDH) Anticorps with Pubmed References

Human Electron-Transferring-Flavoprotein Dehydrogenase (ETFDH) interaction partners

Pig (Porcine) Electron-Transferring-Flavoprotein Dehydrogenase (ETFDH) interaction partners

Antigen Summary

Alternative names and synonyms associated with ETFDH

Protein level used designations for ETFDH