ETFDH Antibody

說明書

中文名稱：

ETFDH兔多克隆抗體
貨號：

CSB-PA007846GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q16134
基因名：

ETFDH
別名：

Electron transfer flavoprotein ubiquinone oxidoreductase antibody; Electron transfer flavoprotein-ubiquinone oxidoreductase antibody; electron transferring flavoprotein dehydrogenase antibody; Electron-transferring-flavoprotein dehydrogenase antibody; ETF dehydrogenase antibody; ETF QO antibody; ETF ubiquinone oxidoreductase antibody; ETF-QO antibody; ETF-ubiquinone oxidoreductase antibody; ETFD_HUMAN antibody; Etfdh antibody; MADD antibody; mitochondrial antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human ETFDH
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Accepts electrons from ETF and reduces ubiquinone.
基因功能參考文獻：
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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相關疾病：

Glutaric aciduria 2C (GA2C)
亞細胞定位：

Mitochondrion inner membrane.
蛋白家族：

ETF-QO/FixC family
數據庫鏈接：

HGNC: 3483

OMIM: 231675

KEGG: hsa:2110

STRING: 9606.ENSP00000426638

UniGene: Hs.155729

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