在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

ETFDH Antibody

  • 中文名稱:
    ETFDH兔多克隆抗體
  • 貨號:
    CSB-PA007846GA01HU
  • 規(guī)格:
    ¥3,900
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 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(chǎn)品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC
  • Protocols:
  • 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(chǎn)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

    顯示更多

    收起更多

  • 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(shù)據(jù)庫鏈接:

    HGNC: 3483

    OMIM: 231675

    KEGG: hsa:2110

    STRING: 9606.ENSP00000426638

    UniGene: Hs.155729



主站蜘蛛池模板: 香蕉av777xxx色综合一区| 午夜福利麻豆国产精品| av毛片无码中文字幕不卡 | 亚洲亚洲熟妇色l图片20p| 亚洲精品无码av人在线观看国产| 777米奇色狠狠888俺也去乱| 香蕉影院在线观看| 亚洲欧美中文日韩在线视频一| 亚洲乱码日产精品bd| 2019久久久最新精品| 欧美精品一区二区蜜臀亚洲| 精品国产一区二区三区四区阿崩| 国产拍拍拍无码视频免费| 国产 | 欧洲野花视频欧洲1| 久久精品国产成人午夜福利| 国产精品一区二区久久不卡| 我和亲妺妺乱的性视频| 国产亚洲精品久久久久秋霞不卡| 日韩一卡二卡三卡四卡免费观在线| 免费无码av片在线观看网址| 国产18禁黄网站免费观看| 成人免费看片又大又黄| 国产女人爽的流水毛片| 亚洲精品久久国产精品浴池| 亚洲精品v日韩精品| 蜜臀av在线播放一区二区三区| 国产喷水福利在线视频| 无码手机线免费观看| 色天使久久综合给合久久97色| 久久香蕉国产线看观看精品yw| 西西人体大胆午夜啪啪| 丰满少妇大叫太大太粗| 99精品国产一区二区三区a片| 国产精品无码一区二区三区电影| 内射少妇36p亚洲区| 亚洲欧洲av一区二区久久| 亚洲 日韩 国产欧美 另类| 越南毛茸茸的少妇| 97免费人妻无码视频| 亚洲欧洲av一区二区久久| 亚洲性无码av在线dvd|