Frataxin (FXN) (NM_000144) Human Recombinant Protein
Product Specifications
Background
This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Synonyms
CyaY; FA; FARR; FRDA; X25
Gene ID
2395
UniProt
Q16595, A0A0S2Z3G4
Accession Number mRNA
NM_000144
Chromosomal Location
9q21.11
Expression System
HEK293T
Tag
C-Myc/DDK
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Function
Druggable Genome
Molecular Weight
18.8 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
FXN
Species
Human
Protein ID
NP_000135
Overview
Recombinant protein of human frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/2395
Uniprot URL
https://www.uniprot.org/uniprot/Q16595
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_000144
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_000135
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