Chromosome 9 Open Reading Frame 72 Proteins (C9ORF72)

Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from C9ORF72 is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Additionally we are shipping C9ORF72 Antibodies (74) and and many more products for this protein.

list all proteins Gene Name GeneID UniProt
C9ORF72 203228 Q96LT7
Mouse C9ORF72 C9ORF72 73205  
C9ORF72 313155 Q66HC3
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Top C9ORF72 Proteins at antibodies-online.com

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Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
$9,626.73
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Wheat germ Human GST tag 25 μg Log in to see 11 to 12 Days
$602.86
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Escherichia coli (E. coli) Human His tag Validation with Western Blot 50 μg Log in to see 11 Days
$291.50
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Yeast Rat His tag   1 mg Log in to see 60 to 71 Days
$3,358.67
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Escherichia coli (E. coli) Human Un-conjugated   5 applications Log in to see 1 to 2 Days
$318.85
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C9ORF72 Proteins by Origin and Source

Origin Expressed in Conjugate
Human , ,
,
Rat (Rattus) ,

More Proteins for Chromosome 9 Open Reading Frame 72 (C9ORF72) Interaction Partners

Human Chromosome 9 Open Reading Frame 72 (C9ORF72) interaction partners

  1. Downregulation of C9orf72 in non-neuronal human cells overexpressing amyloid-beta protein precursor (AbetaPP) resulted in increased levels of secreted AbetaPP fragments and Abeta, while levels of AbetaPP or its C-terminal fragments (CTFs) remained unchanged. In neuronal cells, AbetaPP and C83 CTF levels were decreased upon C9orf72 knockdown, but those of secreted AbetaPP fragments or Abeta remained unchanged.

  2. Four of the ALS patients in this study possessed an expansion of the C9ORF72 gene, which has been linked to the presence of electrophysiological brain abnormalities, including cortical hyperexcitability, background rhythm slowing, and epileptic activity

  3. Sequestration of hnRNP H altered the splicing of target transcripts in C9 amyotrophic lateral sclerosis patients with GGGGCC expansion in the C9ORF72 gene. Here, the show that this signature also occurs in half of 50 postmortem sporadic, amyotrophic lateral sclerosis/frontotemporal dementia brains lacking GGGGCC expansion in the C9ORF72 gene.

  4. Our study thus takes one more step toward the identification of dynamic, unconventional DNA structures across the G-rich repeats at FMR1 and C9orf72 disease-associated loci.

  5. C9orf72 repeat expansions were detected in 12 (20%) of the 60 families, including, in addition to frontotemporal dementia (FTD), a family with neuropathologically verified Alzheimer's disease (AD). Twelve families (10 with AD and 2 with FTD) with representative samples from affected and unaffected subjects and without C9orf72 expansions were selected for whole-exome sequencing.

  6. This was validated by the reduction in motor neuron length even in already formed motor neurons when GR was expressed in these. Hence, the expression of C9orf72-associated dipeptide repeats can cause significant motor deficits in vertebrates

  7. The prevalence of cancer was 9.7% in frontotemporal lobar degeneration (FTLD), 18.7% in Alzheimer's disease, and 17.4% in not cognitively impaired groups. No differences were observed between C9ORF72 repeat expansion carriers and non-carriers inside the FTLD group.

  8. The original Italian pedigree described with frontotemporal dementia/amyotrophic lateral sclerosis carries the C9orf72 repeat expansion.

  9. No difference was observed between C9ORF72 expansion carriers (21.2% of patients) and noncarriers (78.8% of patients) in Frontotemporal Dementia.

  10. Studies found that hexanucleotide (G4C2) repeat expansions in C9orf72 are the major cause of familial forms of ALS. This repeat expansion is known to form abnormal nuclei acid structures, such as hairpins, G-quadruplexes, and R-loops, which form during normal cellular processes, but if they persist they also damage DNA. [review]

  11. Review: Drosophila has been widely used to model G4C2 repeat RNA and dipeptide repeat protein toxicity. Overexpression of disease molecules in flies has revealed important molecular insights. These have been validated and further explored in human neurons differentiated from induced pluripotent stem cells (iPSCs), a disease-relevant model in which expanded G4C2 repeats are expressed in their native molecular context.

  12. Amyotrophic lateral sclerosis patients with C9ORF72 repeat expansions accumulate symmetric arginine demethylated proteins which co-localize with p62.

  13. This study demonstrated that C9orf72 RE is not genetically associated to MS spectrum.

  14. Results found that in sodium or potassium salt solutions, single-stranded d(C2G4)n within C9orf72 gene fold to form G-quadruplexes. Especially under slightly acidic conditions, d(C2G4)n oligonucleotides fold to form a distinctive higher order structure whose most striking feature is an "inverted" circular dichroism spectrum, which is distinguishable from the spectrum of the left handed DNA double-helix, Z-DNA.

  15. repeat RNA-sequestration of SRSF1 triggers the NXF1-dependent nuclear export of C9ORF72 transcripts retaining expanded hexanucleotide repeats

  16. Review discussing the discovery of an intronic (G4C2)*(G2C4) expansion causing the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research.

  17. G4C2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD).

  18. C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews.

  19. C9orf72 disease is clinically heterogeneous and without evident imaging markers

  20. that the overall frequency of C9orf72-positive cases in Greek FTD is high, comparable to Greek ALS, similar to some Western European, but significantly higher than some Mediterranean FTD populations

Mouse (Murine) Chromosome 9 Open Reading Frame 72 (C9ORF72) interaction partners

  1. A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy.

  2. C9orf72 acts by promoting the lysosomal degradation of coactivator-associated arginine methyltransferase 1 (CARM1), which in turn regulates autophagy-lysosomal functions and lipid metabolism.

  3. The findings suggest that C9orf72 functions as a potent negative regulator of autophagy, with a central role in coupling the cellular metabolic state with autophagy regulation.

  4. that epigenetic repression of the C9ORF72 HRE and nearby gene promoter could impede or delay motor neuron degeneration in C9-BAC mouse models of Amyotrophic Lateral Sclerosis

  5. Study generated C9orf72 deficient mice and showed that loss of C9orf72 leads to macrophage infiltration in multiple organs. Additionally, C9orf72 deficiency leads to autophagy defects and increased levels of many lysosomal proteins, supporting a critical role of C9orf72 in regulating autophagy/lysosomal pathway and inflammation in vivo.

  6. that C9ORF72 acts as a modulator of small GTPases in a pathway that regulates axonal actin dynamics

  7. target repeat-containing RNAs but preserve levels of mRNAs encoding C9ORF72 produced sustained reductions in RNA foci and dipeptide-repeat proteins

  8. report a BAC mouse model of C9orf72 ALS/FTD that shows decreased survival, paralysis, muscle denervation, motor neuron loss, anxiety-like behavior, and cortical and hippocampal neurodegeneration

  9. These results demonstrate that the C9orf72-SMCR8 protein complex functions in the regulation of metabolism and provide evidence that loss of C9orf72 function may contribute to the pathogenesis of relevant diseases

  10. two independent mouse lines lacking the C9orf72 ortholog (3110043O21Rik) in all tissues developed normally and aged without motor neuron disease. Instead, C9orf72 null mice developed progressive splenomegaly and lymphadenopathy with accumulation of engorged macrophage-like cells.

C9ORF72 Protein Profile

Protein Summary

Expansion of a hexanucleotide repeat in non-coding 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). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene names and symbols associated with C9ORF72

  • chromosome Z C9orf72 homolog (CZH9orf72)
  • chromosome 9 open reading frame 72 (C9orf72)
  • RIKEN cDNA 3110043O21 gene (3110043O21Rik)
  • similar to RIKEN cDNA 3110043O21 (RGD1359108)
  • chromosome 9 open reading frame 72 L homeolog (c9orf72.L)
  • AI840585 protein
  • ALSFTD protein
  • c9orf72 protein
  • CZH9orf72 protein
  • FTDALS protein

Protein level used designations for C9ORF72

protein C9orf72 , protein C9orf72 homolog , uncharacterized protein LOC496290

GENE ID SPECIES
427370 Gallus gallus
203228 Homo sapiens
73205 Mus musculus
313155 Rattus norvegicus
496290 Xenopus laevis
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