Immunological Sciences

C9orf72 Mouse Monoclonal Antibody

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Catalog Number:MABN82961
Conjugate:Unconjugated
Size:100μL
Concentration:1mg/ml
Host:Mouse
Isotype:Mouse IgG1
Clone:Monoclonal
Immunogen:Purified recombinant fragment of human C9orf72 (AA: 110-199) expressed in E. Coli.
Reactivity:Human, Rat
Applications:IHC 1:200-1:1000,ELISA 1:5000-1:20000,FC 1:200-1:400
Molecular Weight:54.3kDa
Purification:Affinity Purification
Form:Liquid
Synonyms:ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1

Applications

IHC 1:200-1:1000,ELISA 1:5000-1:20000,FC 1:200-1:400

Immunogen

Purified recombinant fragment of human C9orf72 (AA: 110-199) expressed in E. Coli.

Target Background

The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms.

Synonyms:ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1

Storage

Store at 4°C short term. Aliquot and store at -20°C for 12 months. Avoid freeze/thaw cycles.

Buffer

Purified antibody in PBS with 0.05% sodium azide

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