Overview

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      SSNQRGLNQI WNVKKQSVYL MNLRKSGTLG HPGSLDETTY ERLAEETLDS LAEFFEDLAD KPYTFEDYDV SFGSGVLTVK LGGDLGTYVI NKQTPNKQIW LSSPSSGPKR YDWTGKNWVY SHDGVSLHEL LAAELTKALK TKLDLSSLAY SGKDA
    • Molecular weight

      17 kDa
    • Amino acids

      56 to 210

Specifications

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.

  • Applications

    Sandwich ELISA

  • Form

    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

    Constituent: 1% BSA

  • Reconstitution
    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

General Info

  • Alternative names

    • 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
  • Function

    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.
  • Tissue specificity

    Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
  • Involvement in disease

    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.
  • Sequence similarities

    Belongs to the frataxin family.
  • Post-translational
    modifications

    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.
  • Cellular localization

    Cytoplasm. Mitochondrion. PubMed:18725397 reports localization exclusively in mitochondria.
  • Information by UniProt

Images

  • Effect of compounds 136 and 109 on FRDA patients' primary lymphocytes.

    Another extraction of PBMC from patient P13 were treated with either 109 at 10 µM or DMSO for 48 hours and harvested after a 6, 12 or 24 hours wash out period. FXN mRNA was determined by real-time RT-PCR and in Panel G., frataxin protein was assessed by western blotting followed by densitometry quantification after the same time points for wash out.

    Tissues were homogenized in T-PER tissue protein extraction reagent for total proteins extraction. Histones were purified by acid extraction. Primary antibodies were diluted in Odyssey blocking buffer for frataxin and actin or in PBS for total and acetylated histones antibodies and for human frataxin (ab110353). Infrared dye conjugated secondary antibodies (anti-rabbit IRdye800Cw and anti-mouse IRdye680) were used to detect and quantify the signal of mouse frataxin / actin using a Li-Cor Odyssey imaging system. Horseradish Peroxidase (HRP) - conjugated secondary antibodies were used to detect the signal of total and acetylated histones and for the human frataxin / Gapdh signal by chemiluminescence.

  • Sandwich ELISA standard curve using ab110353 within the range 0.00-1.25 ng/well.

References

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

Customer reviews and Q&As

Answer

Thank you for contacting us and reporting the problems you have encountered with the MetaPath™ Mito Disease 4-Plex Dipstick Array (ab109879).

I am sorry to hear you have been experiencing some problems with the array, however, the Cytochrome C oxidase subunit II peptide (ab102090) would not be expected to be detected by the kit. The peptide ab102090 is a 16 amino acid long peptide which is intended to be used as a blocking peptide with the antibody ab91317. As the peptide is such a short sequence of theCytochrome C oxidase subunit II, the antibodies used in the Dipstick Array would not be expected to detect it. Unfortunately, we do not have a suitable protein which can be used with the array. Have you been having problems detecting the Cytochrome C oxidase subunit II with your samples using the array?

In answer to your final question, the proteins detected by the dipstick are PDH, Frataxin, Complex I and Complex IV in this order from the bottom to the top of the dipstick as illustrated on page 4 of the protocol guide to this product:

https://www.abcam.com/ps/products/109/ab109879/documents/ab109879%20MetaPath%E2%84%A2%20Mito%20Disease%204-Plex%20Dipstick%20Array%20protocol%20v2%20%28website%29.pdf

I hope this information has been of help. If you have any further questions, please do not hesitate to contact us again.

Read More

Please note: All products are "FOR RESEARCH USE ONLY. NOT FOR USE IN DIAGNOSTIC PROCEDURES"
For licensing inquiries, please contact partnerships@abcam.com

Sign up