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]

Overview

Recombinant protein of human frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1

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.