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 (73) und und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
C9ORF72 203228 Q96LT7
Maus C9ORF72 C9ORF72 73205  
C9ORF72 313155 Q66HC3
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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
Wheat germ Human GST tag 25 μg Anmelden zum Anzeigen 11 bis 12 Tage
Escherichia coli (E. coli) Human His tag Validation with Western Blot 50 μg Anmelden zum Anzeigen Verfügbar
Hefe Ratte His tag   1 mg Anmelden zum Anzeigen 60 bis 71 Tage
Escherichia coli (E. coli) Human Unkonjugiert   5 applications Anmelden zum Anzeigen 1 bis 2 Tage

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. G4C2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS (zeige IGFALS Proteine)) and/or frontotemporal dementia (FTD (zeige FTL Proteine)).

  2. C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews.

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

  4. 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

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

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

  7. 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).

  8. 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.

  9. 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.

  10. 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.

Mouse (Murine) Chromosome 9 Open Reading Frame 72 (C9ORF72) Interaktionspartner

  1. C9orf72 acts by promoting the lysosomal degradation of coactivator-associated arginine methyltransferase 1 (CARM1 (zeige CARM1 Proteine)), which in turn regulates autophagy-lysosomal functions and lipid metabolism.

  2. The findings suggest that C9orf72 functions as a potent negative regulator of autophagy, with a central role in coupling the cellular metabolic state with autophagy regulation.

  3. that epigenetic repression of the C9ORF72 HRE and nearby gene promoter could impede or delay motor neuron degeneration in C9-BAC mouse models of Amyotrophic Lateral Sclerosis

  4. Study generated C9orf72 deficient mice and showed that loss of C9orf72 leads to macrophage infiltration in multiple organs. Additionally, C9orf72 deficiency leads to autophagy defects and increased levels of many lysosomal proteins, supporting a critical role of C9orf72 in regulating autophagy/lysosomal pathway and inflammation in vivo.

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

  6. target repeat-containing RNAs but preserve levels of mRNAs encoding C9ORF72 produced sustained reductions in RNA foci and dipeptide-repeat proteins

  7. report a BAC mouse model of C9orf72 ALS/FTD (zeige FTL Proteine) that shows decreased survival, paralysis, muscle denervation, motor neuron loss, anxiety-like behavior, and cortical and hippocampal neurodegeneration

  8. These results demonstrate that the C9orf72-SMCR8 protein complex functions in the regulation of metabolism and provide evidence that loss of C9orf72 function may contribute to the pathogenesis of relevant diseases

  9. two independent mouse lines lacking the C9orf72 ortholog (3110043O21Rik) in all tissues developed normally and aged without motor neuron disease. Instead, C9orf72 null mice developed progressive splenomegaly and lymphadenopathy with accumulation of engorged macrophage-like cells.

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)
  • RIKEN cDNA 3110043O21 gene (3110043O21Rik)
  • similar to RIKEN cDNA 3110043O21 (RGD1359108)
  • chromosome 9 open reading frame 72 L homeolog (c9orf72.L)
  • AI840585 Protein
  • ALSFTD Protein
  • c9orf72 Protein
  • CZH9orf72 Protein
  • FTDALS Protein

Bezeichner auf Proteinebene für C9ORF72

protein C9orf72 , protein C9orf72 homolog , uncharacterized protein LOC496290

427370 Gallus gallus
203228 Homo sapiens
73205 Mus musculus
313155 Rattus norvegicus
496290 Xenopus laevis
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