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 (67) and and many more products for this protein.

list all proteins Gene Name GeneID UniProt
C9ORF72 203228 Q96LT7
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Top C9ORF72 Proteins at

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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
Wheat germ Human GST tag 25 μg Log in to see 11 to 12 Days
Escherichia coli (E. coli) Human His tag Validation with Western Blot 50 μg Log in to see 10 to 12 Days
Escherichia coli (E. coli) Human Un-conjugated   5 applications Log in to see 1 to 2 Days

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. C9ORF72 repeat expansion leads to the upregulation of GluA1 (show GRIA1 Proteins) in motor neurons, that could lead to a potential pathogenic excitotoxic mechanism in amyotrophic lateral sclerosis patients.

  2. This study demonstrated that in ALS (show IGFALS Proteins) with cognition disorder has C9orf72 mutation.

  3. von Economo neuron density was reduced in sporadic behavioral variant frontotemporal dementia (bvFTD) cases only. Thalamus degeneration was identified only in bvFTD cases with the C9ORF72 repeat expansion, and to a similar extent in cases with and without psychosis. No significant difference in von Economo neuron density or thalamus degeneration was seen between bvFTD cases with or without the C9ORF72 repeat expansion.

  4. The result of this study concluded that behavioral variant frontotemporal dementia patients carrying the C9ORF72 expansion may display more pronounced executive deficits together with less severe verbal memory impairment as compared to their non-carrier behavioral variant frontotemporal dementia counterparts.

  5. The C9orf72 hexanucleotide repeat was only found in humans, chimpanzees and gorillas, species with higher opposability indices

  6. toxic poly-dipeptides translated from C9orf72 may account for hereditary cases of amyotrophic lateral sclerosis and frontotemporal dementia

  7. Demyelinating lesions might facilitate expressivity of C9orf72 expansion, through NF-kappaB (show NFKB1 Proteins) activation. This plausible association may lead to the identification of a therapeutic target in this subgroup of C9orf72-amyotrophic lateral sclerosis patients.

  8. These findings suggest that the presence of a C9orf72 mutation does not influence the tau signature of ALS or ALSci.

  9. We created Smcr8 knockout mice and found that Smcr8 mutant cells exhibit impaired autophagy induction, which is similarly observed in C9orf72 knockdown cells. Mechanistically, SMCR8/C9ORF72 interacts with the key autophagy initiation ULK1 (show ULK1 Proteins) complex and regulates expression and activity of ULK1 (show ULK1 Proteins)

  10. Our study did not find any pathological C9ORF72 repeat expansions in two large groups of patients with disease and multiple system atrophy, suggesting that C9ORF72 expansions do not play a major role in the susceptibility to the wider spectrum of Parkinsonism. However, study identified a statistically significant association between number of repeats and age at onset in Parkinson's disease patients.

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)
  • ALSFTD protein
  • CZH9orf72 protein
  • FTDALS protein

Protein level used designations for C9ORF72

protein C9orf72

427370 Gallus gallus
203228 Homo sapiens
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