Recombinant Human Frataxin protein (ab110353)
Key features and details
- Expression system: Escherichia coli
- Suitable for: Sandwich ELISA
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Product name
Recombinant Human Frataxin protein
See all Frataxin proteins and peptides -
Expression system
Escherichia coli -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
SSNQRGLNQI WNVKKQSVYL MNLRKSGTLG HPGSLDETTY ERLAEETLDS LAEFFEDLAD KPYTFEDYDV SFGSGVLTVK LGGDLGTYVI NKQTPNKQIW LSSPSSGPKR YDWTGKNWVY SHDGVSLHEL LAAELTKALK TKLDLSSLAY SGKDA -
Predicted molecular weight
17 kDa -
Amino acids
56 to 210
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Preparation and Storage
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Alternative names
- CyaY
- d-FXN
- FA
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
modificationsProcessed 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
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Western blot - Recombinant Human Frataxin protein (ab110353) Rai et al PLoS One. 2010 Jan 21;5(1):e8825. doi: 10.1371/journal.pone.0008825. Fig 2.
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.
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Sandwich ELISA - Recombinant Human Frataxin protein (ab110353)Sandwich ELISA standard curve using ab110353 within the range 0.00-1.25 ng/well.
