Recombinant Human Frataxin, mitochondrial (FxN)

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Code CSB-EP613687HU(A4)b1
Size $224
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Target Names
FXN
Uniprot No.
Research Area
Tags & Cell Markers
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
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
1-210aa
Target Protein Sequence
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSG kDa
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
28.1 kDa
Protein Length
Full Length
Tag Info
N-terminal 10xHis-tagged and C-terminal Myc-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
3-7 business days
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.

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Target Background

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.
Gene References into Functions
  1. the levels of frataxin must be tightly regulated and fine-tuned, with any imbalance leading to oxidative stress and toxicity. PMID: 29794127
  2. Knockdown of frataxin by > 70% in human hepatoma HepG2 cells caused a 20% reduction in secreted ApoA-I PMID: 29447225
  3. In this study, the authors demonstrate that frataxin regulates the expression of genes involved in interferon induced apoptosis, DNA damage and blood clotting regulation. PMID: 27350085
  4. the effect of alterations in loop-1, a stretch presumably essential for FXN function, on the conformational stability and dynamics of the native state. PMID: 29097312
  5. differentiation of these induced pluripotent stem cells into neurons also results in resilencing of the FXN gene. PMID: 27615158
  6. The NFS1/ISD11 complex further interacts with scaffold protein ISCU and regulator protein frataxin, thereby forming a quaternary complex for Fe-S cluster formation. PMID: 28271877
  7. Molecular dynamics flexible fitting of protein structures docked into the EM map of the model revealed a [FXN(42-210)]24.[NFS1]24.[ISD11]24.[ISCU]24 complex, consistent with the measured 1:1:1:1 stoichiometry of its four components. PMID: 27519411
  8. By interphase, FISH we found that in comparison to the normal Frataxin sequence the replication of expanded alleles is slowed or delayed. According to molecular combing, origins never fired within the normal Frataxin allele. PMID: 27447727
  9. The differentially expressed FXN regulates the development of congenital heart disease (CHD) and the differential expression was under the control of miRNA-145. These results might provide new insight into the understanding of CHD pathogenesis and may facilitate further therapeutic studies. PMID: 26717909
  10. Results presented here shed light on the folding mechanism of frataxin, opening the possibility of mutating it to generate hyperstable variants without altering their folding kinetics. PMID: 26856628
  11. relative FXN expression in the patients was found to be correlated with the levels of MDA and ferritin but not correlated with transferrin saturation PMID: 26589002
  12. Frataxin (FXN) gene mutations lead to mitochondrial iron accumulation without total body/organ iron overload. The clinical consequences are spinocerebellar degeneration and frequent cardiomyopathy. PMID: 26596411
  13. Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein. PMID: 26671574
  14. In compound heterozygotes, expression of partially functional mutant frataxin delays age of onset and reduces diabetes mellitus, compared to those with no frataxin expression from the non-expanded allele. PMID: 26704351
  15. FXN promoter function was directly measured via metabolic labeling of newly synthesized transcripts in fibroblasts, which revealed that the YG8sR mouse was significantly deficient in transcriptional initiation compared to the Y47R mouse. PMID: 26393353
  16. Thus, Src inhibitors emerge as a new class of drugs able to promote frataxin accumulation, suggesting their possible use as therapeutics in Friedreich's Ataxia PMID: 25948553
  17. Engineered a cell line where the presence of an exogenous, inducible FXN gene rescues the cells from the knockout of the two endogenous FXN genes. This system allows the possibility of testing the progression of disease. PMID: 26035392
  18. The region of chromosome 9 carrying the FXN gene is prone to chromosomal rearrangements in both control and Friedreich ataxia patient cells. PMID: 26379101
  19. Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells PMID: 25814655
  20. Findings confirm a detrimental effect of frataxin silencing, not only for astrocytes, but also for neuron-glia interactions, underlining the need to take into account the role of non-cell autonomous processes in Friedreich's ataxia. PMID: 25554687
  21. We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation PMID: 25831023
  22. Patients with a FXN p.R165P missense mutation progress to a less disabling disease state than typical Friedreich ataxia patients PMID: 24816001
  23. FXN accelerates a rate-limiting sulfur transfer step in the synthesis of [2Fe-2S] clusters on the human Fe-S assembly complex. PMID: 26016518
  24. and the distribution of Nrf2 in silenced neurons for frataxin gene. Decreased Nrf2 mRNA content and a defective activation after treatment with pro-oxidants have been evidenced in frataxin-silenced neurons PMID: 23574943
  25. frataxin absence is associated with overexpression of cell death-related genes, cell cycle arrest and oxidative related genes, as well as DNMT1, supporting the notion that DNA repair and epigenetic mechanisms are implicated in Friedreich's ataxia disease. PMID: 25929520
  26. The decrease of p53 function and level reduced frataxin mRNA and protein.The transcriptional activity of the human frataxin gene is enhanced by p53. PMID: 25158131
  27. Reduced expression of frataxin in Friedreich's ataxia leads to elevation of COX2-mediated oxylipin synthesis stimulated by increases in transcription factors that respond to increased reactive oxygen species. PMID: 25104852
  28. In Friedreich ataxia, aberrant glucose metabolism is linked to increasing age, longer GAA repeat length on the shorter allele, frataxin point mutations, and increasing Body Mass Index. PMID: 24819921
  29. Study determined the frequencies and repeat lengths for FXN trinucleotide repeat expansions in familial and sporadic amyotrophic lateral sclerosis cohorts, as well as in healthy controls PMID: 24613765
  30. This study provides proof of principle that an orally dosed class I HDACi can increase both FXN mRNA and acetylation of a key residue in the blood of FRDA patients. PMID: 25159818
  31. review focuses on the emerging function of frataxin in relation to the observed alterations in mitochondrial iron metabolism in Friedreich's ataxia. PMID: 24138602
  32. FXN promoter silencing in FRDA is dependent on the length of the expanded GAA-TR mutation. PMID: 25112975
  33. The results support a mechanistic hypothesis in which frataxin deficiency decreases Nrf2 expression in vivo, causing the sensitivity to oxidative stress in target tissues the DRG and the cerebella, which contributes to the process of neurodegeneration. PMID: 23350650
  34. dysregulated Fe-S cluster biogenesis is a primary effect of both frataxin overexpression and deficiency as in Friedreich's ataxia. PMID: 24997422
  35. Deficient transcriptional initiation, and not elongation, is the major cause of FXN transcriptional deficiency in Friedreich ataxia. PMID: 24737321
  36. The pathological frataxin mutation L198R yields a global destabilization of the structure. PMID: 24920569
  37. Fe-S assembly protein and frataxin convert substrates l-cysteine, ferrous iron, and electrons into Fe-S clusters. PMID: 24971490
  38. This early failure, aggravating frataxin deficiency in a specifically vulnerable human cell population, indicates a developmental component in Friedreich ataxia . PMID: 23879205
  39. Increased DNA methylation at the FXN upstream GAA region, primarily 5 hmC rather than 5 mC, and decreased CTCF occupancy at the FXN 5' UTR are associated with FRDA disease-relevant human tissues. PMID: 24023969
  40. The data presented here show that the Isu1 suppressor mimics the frataxin effects on Nfs1, explaining the bypassing activity. PMID: 24217246
  41. suggest that iron coordination to frataxin may be significant to the Fe-S cluster biosynthesis pathway in mitochondria. PMID: 23909240
  42. Higher frataxin levels predicted less severe neurological dysfunction and were associated with slower rates of neurological change. PMID: 23691127
  43. This study described a novel deletion in exon 5a of the FXN gene in patient with Friedreich ataxia. PMID: 23196337
  44. frataxin is a crucial element of one of the most essential cellular machines specialized in iron-sulfur cluster biogenesis--{REVIEW} PMID: 23859340
  45. Our results suggest for the first time that post-transcriptional regulation of frataxin occurs through the 3'-UTR and involves miRNA targeting. PMID: 23382970
  46. Transcription activator-like effector proteins induce the expression of the frataxin gene PMID: 22587705
  47. local unfolding of the C-terminal region may be a critical step for the global unfolding of hFXN, and modulation of the CTR interactions may strongly affect hFXN physiological function PMID: 23049850
  48. frataxin point mutations have complex biochemical effects that synergistically contribute to the pathophysiology of Friedreich ataxia. PMID: 23269675
  49. The protein level of isoform III decreased in Friedreich ataxia (FRDA] patient heart, while the mRNA level of isoform II decreased more in FRDA patient cerebellum compared to total FXN mRNA. PMID: 23082224
  50. The guanine-adenine-adenine trinucleotide repeat expansion of FXN caused Friedreich ataxia. PMID: 23334592

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Involvement in disease
Friedreich ataxia (FRDA)
Subcellular Location
Mitochondrion. Cytoplasm, cytosol.
Protein Families
Frataxin family
Tissue Specificity
Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
Database Links

HGNC: 3951

OMIM: 229300

KEGG: hsa:2395

STRING: 9606.ENSP00000366482

UniGene: Hs.20685

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