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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 (60) 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

Showing 4 out of 4 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
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HOST_Wheat germ Human GST tag 25 μg Log in to see 9 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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HOST_Escherichia coli (E. coli) Human Un-conjugated   50 μg Log in to see 9 to 11 Days
$229.85
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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. This study suggested that Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA is the the pathogenesis of ALS (show IGFALS Proteins)/FTD (show FTL Proteins).

  2. C9orf72 mutations may be rare in frontotemporal lobar degeneration patients in India

  3. In our Chinese cohort, no pathological repeat expansion of C9ORF72 was detected in either spinocerebellar ataxia (show USP14 Proteins) patients or controls.

  4. Data suggest that the conformation of C9orf72 hexanucleotide repeat expansion (HRE) DNA may provide structural basis for designing small molecules for the modulation of amyotrophic lateral sclerosis (ALS (show IGFALS Proteins)) and frontotemporal dementia (FTD (show FTL Proteins)) pathogenesis.

  5. C9orf72 expansion mutations were found in 5 patients with frontotemporal dementia.

  6. Despite the high frequency of psychiatric symptoms in behavioral variant frontotemporal dementia patients and the extremely high prevalence of the C9ORF72 expansion in Finland, pathogenic expansion (>40 repeats) was not detected in individuals with psychosis.

  7. review of the genetic epidemiology and molecular pathophysiology of frontotemporal lobar degeneration /amyotrophic lateral sclerosis with hexanucleotide repeat expansions in C9orf72

  8. A few patients with schizophrenia / schizoaffective disorder carry C9orf72 repeat expansions; such individuals are highly likely to develop frontotemporal dementia or amyotrophic lateral sclerosis.

  9. C9orf72 expression levels are reduced in FTD (show FTL Proteins) brains.

  10. Hexanucleotide C9ORF72 expansions of with intermediate 20 to 29 repetitions could be associated with typical PD with psychosis or dementia and atypical parkinsonisms with dementia.

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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