C9orf72

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.
Full Name
C9orf72-SMCR8 Complex Subunit

Anti-C9orf72 antibodies

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Target: C9orf72
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CF058
Application*: E, WB, IH, IF, IP
Target: C9orf72
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rat
Clone: CBT4624
Application*: IH, F
Target: C9orf72
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human, Mouse, Monkey, Rat
Clone: CBT4576
Application*: WB, IH, IC, F
Target: C9orf72
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat
Clone: CBYY-C3138
Application*: WB, IF, P
Target: C9ORF72
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Cat
Clone: CBFYC-0680
Application*: WB, IF, P
Target: C9orf72
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: 5F2
Application*: WB
Target: C9orf72
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Monkey, Pig, Sheep, Cattle
Clone: RB
Application*: WB, IF, P
More Infomation
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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