製品の概要

製品の詳細

  • 由来Recombinant
  • 由来Escherichia coli
  • アミノ酸配列
    • アクセッション番号Q16595
    • 生物種Human
    • 分子量17 kDa
    • 領域56 to 210

関連製品

特性

Our Abpromise guarantee covers the use of ab110353 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • アプリケーション

    Sandwich ELISA

  • 製品の状態Lyophilised
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped at 4°C. Store at 4°C prior to reconstitution. Store at -80°C. Avoid freeze / thaw cycle.

    Constituent: 1% BSA

  • 再構成Ships at 4°C. Store lyophilized powder at 4°C. Reconstitute with 0.2 mL of H2O to a final concentration of 60ng/mL. Reconstituted solution should be stored at -80°C. Concentration: 0.00006 mg/mL after reconstitution with 0.2 mL H2O

関連情報

  • 別名
    • CyaY
    • d-FXN
    • FA
    • FARR
    • Frataxin mature form
    • Frataxin(81-210)
    • FRDA
    • FRDA_HUMAN
    • Friedreich ataxia protein
    • Fxn
    • i-FXN
    • m56-FXN
    • m78-FXN
    • m81-FXN
    • MGC57199
    • X25
    see all
  • 機能Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.
  • 組織特異性Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
  • 関連疾患Defects in FXN are the cause of Friedreich ataxia (FRDA) [MIM:229300]. FRDA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.
  • 配列類似性Belongs to the frataxin family.
  • 翻訳後修飾Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.
  • 細胞内局在Cytoplasm. Mitochondrion. PubMed:18725397 reports localization exclusively in mitochondria.
  • Information by UniProt

Recombinant Human Frataxin protein 画像

  • Image showing standard curve using ab110353.

Recombinant Human Frataxin protein (ab110353) 使用論文

This product has been referenced in:
  • Saccà F  et al. Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia. Mov Disord N/A:N/A (2016). Read more (PubMed: 26879839) »
  • Wedding IM  et al. Friedreich ataxia in Norway - an epidemiological, molecular and clinical study. Orphanet J Rare Dis 10:108 (2015). Read more (PubMed: 26338206) »

See all 4 Publications for this product

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