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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

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)

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Can you elaborate on the interactions between FXN and iron regulatory proteins in the cell? 04/26/2022

FXN interacts with iron regulatory proteins, influencing cellular iron homeostasis by modulating the expression of genes involved in iron metabolism.

What is the impact of FXN deficiency on the sensitivity of cells to oxidative stress? 01/23/2021

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.

Can you explain the chemistry behind the iron-sulfur cluster assembly facilitated by FXN? 08/28/2020

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.

How does FXN contribute to the regulation of cellular energy metabolism? 02/09/2019

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.

How does FXN deficiency lead to Friedreich's ataxia on a molecular level? 04/05/2018

FXN deficiency results in impaired iron-sulfur cluster assembly, leading to mitochondrial dysfunction, oxidative stress, and ultimately causing Friedreich's ataxia.

Customer Reviews (3)

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Reviews
01/28/2021

    Customer service was courteous and efficient, guiding us through the product selection process with expertise.

    12/20/2019

      The consistent quality of this product has made it a staple in our lab, contributing to the success of various research projects.

      09/02/2018

        Delivery was quick and hassle-free, allowing us to proceed with our experiments without any unnecessary delays.

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