KO Validated Antibodies 1

Anti-FXN / Frataxin Antibody (CAB16688)[KO Validated]

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SKU:
CAB16688
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Metabolism

Description

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Antibody Name:Anti-FXN / Frataxin Antibody [KO Validated]
Antibody SKU:CAB16688
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 42-210 of human FXN / Frataxin (NP_000135.2).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse
Positive Samples:K-562, U-87MG, Jurkat, Raji, DU-145, Mouse kidney, Mouse liver, Mouse heart
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 42-210 of human FXN / Frataxin (NP_000135.2).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:LRTD IDAT CTPR RASS NQRG LNQI WNVK KQSV YLMN LRKS GTLG HPGS LDET TYER LAEE TLDS LAEF FEDL ADKP YTFE DYDV SFGS GVLT VKLG GDLG TYVI NKQT PNKQ IWLS SPSS GPKR YDWT GKNW VYSH DGVS LHEL LAAE LTKA LKTK LDLS SLAY SGKD A
Gene ID:2395
Uniprot:Q16595
Cellular Location:Cytoplasm, Mitochondrion
Calculated MW:19kDa/21kDa/23kDa
Observed MW:14kDa
Synonyms:FXN, CyaY, FA, FARR, FRDA, X25, frataxin
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.
UniProt Protein Function:FXN: 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. Defects in FXN are the cause of Friedreich ataxia (FRDA). FRDA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. Belongs to the frataxin family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Motility/polarity/chemotaxis; Mitochondrial; EC 1.16.3.1

Chromosomal Location of Human Ortholog: 9q21.11

Cellular Component: mitochondrion; mitochondrial matrix; cytosol

Molecular Function:2 iron, 2 sulfur cluster binding; ferroxidase activity; protein binding; ferric iron binding; ferrous iron binding; iron-sulfur cluster binding

Biological Process: mitochondrion organization and biogenesis; negative regulation of multicellular organism growth; cellular iron ion homeostasis; positive regulation of metalloenzyme activity; positive regulation of transferase activity; proprioception; negative regulation of organ growth; positive regulation of cell growth; adult walking behavior; protein autoprocessing; embryonic development ending in birth or egg hatching; iron incorporation into metallo-sulfur cluster; positive regulation of lyase activity; positive regulation of cell proliferation; aerobic respiration; ion transport; response to iron ion; negative regulation of apoptosis; positive regulation of oxidoreductase activity; oxidative phosphorylation; heme biosynthetic process

Disease: Friedreich Ataxia 1

NCBI Summary: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]
UniProt Code:Q16595
NCBI GenInfo Identifier:6166193
NCBI Gene ID:2395
NCBI Accession:Q16595.2
UniProt Related Accession:Q16595
Molecular Weight:23kDa
NCBI Full Name:Frataxin, mitochondrial
NCBI Synonym Full Names:frataxin
NCBI Official Symbol:FXN  
NCBI Official Synonym Symbols:FA; X25; CyaY; FARR; FRDA  
NCBI Protein Information:frataxin, mitochondrial
UniProt Protein Name:Frataxin, mitochondrial
UniProt Synonym Protein Names:Friedreich ataxia protein; Fxn
UniProt Gene Name:FXN  
UniProt Entry Name:FRDA_HUMAN
Anti-FXN / Frataxin Antibody [KO Validated] (CAB16688)Western blot analysis of extracts of various cell lines, using FXN / Frataxin antibody (CAB16688) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.
Anti-FXN / Frataxin Antibody [KO Validated] (CAB16688)Western blot analysis of extracts from normal (control) and FXN / Frataxin knockout (KO) 293T cells, using FXN / Frataxin antibody (CAB16688) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 3min.
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