Chromosome 9 Open Reading Frame 72 Proteine (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). Zusätzlich bieten wir Ihnen C9ORF72 Antikörper (78) und und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
C9ORF72 203228 Q96LT7
C9ORF72    
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Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 60 Days
$9,797.11
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Wheat germ Human GST tag 25 μg Anmelden zum Anzeigen 11 bis 12 Tage
$602.86
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Escherichia coli (E. coli) Human His tag Validation with Western Blot 50 μg Anmelden zum Anzeigen Verfügbar
$284.90
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Escherichia coli (E. coli) Human Unkonjugiert   5 applications Anmelden zum Anzeigen 1 bis 2 Tage
$318.85
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C9ORF72 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , ,
,
Rat (Rattus)

Weitere Proteine zu Chromosome 9 Open Reading Frame 72 (C9ORF72) Interaktionspartnern

Human Chromosome 9 Open Reading Frame 72 (C9ORF72) Interaktionspartner

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

  2. that the overall frequency of C9orf72-positive cases in Greek FTD (zeige FTL Proteine) is high, comparable to Greek ALS (zeige IGFALS Proteine), similar to some Western European, but significantly higher than some Mediterranean FTD (zeige FTL Proteine) populations

  3. The C9orf72 repeat expansion linked to aggressive disease in male patients with spinal-onset ALS.

  4. The genetic mutations of C9ORF72 caused amyotrophic lateral sclerosis.

  5. Findings provide evidence that C9orf72 poly GA is a key mediator of cytotoxicity and that cross-talk between DPR (zeige DACT1 Proteine) proteins likely modifies their pathogenic status in C9ALS/FTD (zeige FTL Proteine).

  6. DNA methylation (zeige HELLS Proteine) 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.

  7. 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.

  8. 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.

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

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

C9ORF72 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit C9ORF72

  • chromosome Z C9orf72 homolog (CZH9orf72)
  • chromosome 9 open reading frame 72 (C9orf72)
  • ALSFTD Protein
  • CZH9orf72 Protein
  • FTDALS Protein

Bezeichner auf Proteinebene für C9ORF72

protein C9orf72

GENE ID SPEZIES
427370 Gallus gallus
203228 Homo sapiens
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