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).

list all proteins Gene Name GeneID UniProt
Human C9ORF72 C9ORF72 203228 Q96LT7
How to order from antibodies-online
  • +1 877 302 8632
  • +1 888 205 9894 (toll-free)
  • Order online
  • orders@antibodies-online.com

Top C9ORF72 Proteins at antibodies-online.com

Showing 4 out of 4 products:

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
$8,498.50
Details
Wheat germ Human GST tag 25 μg Log in to see 11 to 12 Days
$602.86
Details
Escherichia coli (E. coli) Human His tag Validation with Western Blot 50 μg Log in to see Available
$284.90
Details
Escherichia coli (E. coli) Human Un-conjugated   5 applications Log in to see 1 to 2 Days
$318.85
Details

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

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

  1. DNA methylation (show HELLS Proteins) analysis of C9orf72 patients revealed that increased DNAm age-acceleration is associated with a more severe disease phenotype with a shorter disease duration and earlier age of onset.

  2. This study demonstrated that poly-GA triggers behavioral deficits through inflammation and protein sequestration that likely contribute to the prodromal symptoms and disease progression of C9orf72 patients.

  3. A pathological repeat expansion in the C9orf72 gene (50 repeats) was found in a patient with mild diffuse brain atrophy and type 2 progressive apraxia of speech. This is the first described association of this gene with type 2 progressive speech apraxia.

  4. The association of the C9orf72 repeat expansion with ALS and frontotemporal degeneration.

  5. in common neurological diseases, intermediate C9orf72 repeats do not influence disease risk but may associate with higher frequency of neuropsychiatric symptoms

  6. C9ORF72 causes suboptimal autophagy

  7. Mutations in the footprinted region of Nup54 (show NUP54 Proteins) polymers blocked both polymerization and binding by the toxic proline:arginine poly-dipeptide suggesting that toxicity of the C9orf72 PRn (show NARFL Proteins) poly-dipeptide results in part from its ability to lock the FG repeats of nuclear pore proteins in the polymerized state.

  8. DPR (show DACT1 Proteins)-mediated dysfunction of U2 snRNP (show LSM2 Proteins) could account for as much as approximately 44% of the mis (show AMH Proteins)-spliced cassette exons in C9ORF72 patient brains.

  9. 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.

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

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

GENE ID SPECIES
427370 Gallus gallus
203228 Homo sapiens
Did you look for something else?