Recombinant Human FXN protein, His-tagged
Cat.No. : | FXN-19H |
Product Overview : | Recombinant Human FXN (amino acids 56-210) fussed with His tag at N-terminal was expressed in E. coli. |
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Description : | Frataxin was discovered as defects in the frataxin gene are causative of Friedreich’s ataxia, a rare progressive neurological disorder. The defect is autosomal recessive, meaning that both frataxin genes must be defective in a particular individual in order to generate the disease phenotype. The genetic defects are usually localized to the first intron of the frataxin gene, which in normal individuals includes 7-22 copies of tandemly repeated GAA trinucleotides. In affected individuals, there are many more GAA repeats, 200-900 being noted in the original paper, with most individuals having 700-800. This disease is therefore one of the family of diseases associated with various forms of nucleotide repeat amplification, other well known examples being Huntington’s disease, some forms of ALS and fragile X syndrome. In the case of Friedreich’s ataxia, the repeats result in lowered level of frataxin protein production, and this in turn leads to progressive cell death, particularly in neurons of the spinal cord and peripheral ganglia.The normal function of frataxin is not well understood, but appears to be involved in protecting mitochondria from free radical damage. In affected individuals, there are motor and sensory deficits and a variety of other problems which may include heart disorders and diabetes. The HGNC name for this protein is FXN. |
Source : | E. coli |
Species : | Human |
Tag : | His |
Molecular Mass : | 27 kDa |
Gene Name : | FXN frataxin [ Homo sapiens ] |
Official Symbol : | FXN |
Synonyms : | FA; X25; CyaY; FARR; FRDA; frataxin, mitochondrial; Friedreich ataxia protein |
Gene ID : | 2395 |
mRNA Refseq : | NM_000144 |
Protein Refseq : | NP_000135 |
MIM : | 606829 |
UniProt ID : | Q16595 |
Chromosome Location : | 9q21.11 |
Pathway : | HIF-2-alpha transcription factor network, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of proteins, organism-specific biosystem |
Function : | 2 iron, 2 sulfur cluster binding; ferric iron binding; ferrous iron binding |
Products Types
◆ Recombinant Protein | ||
Fxn-1218R | Recombinant Rat Fxn Protein, His-tagged | +Inquiry |
FXN-1592R | Recombinant Rhesus Macaque FXN Protein, His (Fc)-Avi-tagged | +Inquiry |
FXN-1397M | Recombinant Mouse FXN Protein (78-207 aa), His-tagged | +Inquiry |
FXN-4576H | Recombinant Human FXN Protein, GST-tagged | +Inquiry |
Fxn-3112M | Recombinant Mouse Fxn Protein, Myc/DDK-tagged | +Inquiry |
◆ Lysates | ||
FXN-6108HCL | Recombinant Human FXN 293 Cell Lysate | +Inquiry |
Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (5)
Ask a questionFXN interacts with iron regulatory proteins, influencing cellular iron homeostasis by modulating the expression of genes involved in iron metabolism.
FXN deficiency increases cellular sensitivity to oxidative stress due to the disruption of iron homeostasis, leading to the accumulation of reactive oxygen species and cellular damage.
FXN assists in the formation of iron-sulfur clusters by providing a scaffold for the assembly of iron and sulfur atoms, promoting the stability and functionality of these clusters.
FXN influences cellular energy metabolism by supporting the function of iron-sulfur cluster-containing enzymes involved in key metabolic pathways, such as the tricarboxylic acid (TCA) cycle.
FXN deficiency results in impaired iron-sulfur cluster assembly, leading to mitochondrial dysfunction, oxidative stress, and ultimately causing Friedreich's ataxia.
Customer Reviews (3)
Write a reviewCustomer service was courteous and efficient, guiding us through the product selection process with expertise.
The consistent quality of this product has made it a staple in our lab, contributing to the success of various research projects.
Delivery was quick and hassle-free, allowing us to proceed with our experiments without any unnecessary delays.
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