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

list all proteins Gene Name GeneID UniProt
C9ORF72 203228 Q96LT7
C9ORF72    
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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
$7,759.50
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HOST_Escherichia coli (E. coli) Human His tag Validation with Western Blot 50 μg Log in to see 10 to 12 Days
$229.85
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HOST_Wheat germ Human GST tag 25 μg Log in to see 11 to 12 Days
$591.43
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HOST_Escherichia coli (E. coli) Human Un-conjugated   5 applications Log in to see 1 to 2 Days
$312.71
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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. no pathogenic GGGGCC repeats in C9orf72 were detected in any case

  2. Study shows that the pathogenic C9orf72 expansion is not present in pathologically confirmed Caucasian Dementia with Lewy bodies patients.

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

  4. C9orf72 is expressed strongly in the olfactory bulb and also in the hippocampus, besides the cerebellum and motor cortex of embryonic, postnatal and adult brain.

  5. Toxic C9orf72 dipeptide repeats change the arginine content and alter the properties of stress granules.

  6. Neurons in the hippocampus of C9orf72 patients are frequently devoid of hnRNPA3 (show HNRNPA3 Proteins). Reduced nuclear hnRNPA3 (show HNRNPA3 Proteins) in the hippocampus of patients with extended C9orf72 repeats correlates with increased DPR (show DACT1 Proteins) deposition.

  7. DNA repeat expansion in C9orf72 gene is associated with amyotrophic lateral sclerosis.

  8. a complete screening for mutations in MAPT (show MAPT Proteins), GRN (show GRN Proteins) and C9ORF72 genes revealed a frequency of 5.4% of pathogenic mutations in a random cohort of 93 Turkish index patients with dementia

  9. Study found that the pattern of scores of three clinical measures distinguished between amyotrophic lateral sclerosis (ALS (show IGFALS Proteins)), ALS (show IGFALS Proteins)-familial frontotemporal dementia (FTD (show FTL Proteins)), or behavioral-variant FTD (show FTL Proteins) presentations of C9orf72 mutation carriers and asymptomatic carriers. Longitudinal changes in these measures occurred with disease progression in a manner consistent with presenting phenotype.

  10. we demonstrate, using electrophysiology, that different sized DPRs have different physiological effects with the longest having the most profound. These findings suggest that models expressing smaller DPRs could produce data that is of questionable relevance and that DPRs of pathophysiological length should be used when modelling C9orf72 related disease

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 open reading frame, human C9orf72 (C9ORF72)
  • 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
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