Chromosome 9 Open Reading Frame 72 (C9orf72)

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Chromosome 9 Open Reading Frame 72 (C9orf72)
C9orf72 is found in many regions of the brain, in the cytoplasm of neurons as well as in presynaptic terminals.The mutation of C9ORF72 is a hexanucleotide repeat expansion of the six letter string of nucleotides GGGGCC. In a normal person, there are up to 30 repeats of this hexanucleotide, but in people with the mutation, the repeat can occur in the order of hundreds. It is known that the mutation interferes with normal expression of the protein made by C9orf72, however the function of that protein is unknown. There are two major theories about the way that the C9ORF72 mutation causes FTD and/or ALS. One theory is that accumulation of RNA in the nucleus and cytoplasm becomes toxic, and RNA binding protein sequestration occurs.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Chromosome 9 Open Reading Frame 72 (C9orf72)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Chromosome 9 Open Reading Frame 72 (C9orf72)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Chromosome 9 Open Reading Frame 72 (C9orf72)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Chromosome 9 Open Reading Frame 72 (C9orf72)CLIA Kit Customized Service Offer
n/aELISA Kit for Chromosome 9 Open Reading Frame 72 (C9orf72)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Chromosome 9 Open Reading Frame 72 (C9orf72)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Chromosome 9 Open Reading Frame 72 (C9orf72)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Chromosome 9 Open Reading Frame 72 (C9orf72)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Chromosome 9 Open Reading Frame 72 (C9orf72)CLIA Kit Customized Service Offer
n/aELISA Kit for Chromosome 9 Open Reading Frame 72 (C9orf72)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Chromosome 9 Open Reading Frame 72 (C9orf72)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Chromosome 9 Open Reading Frame 72 (C9orf72)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Chromosome 9 Open Reading Frame 72 (C9orf72)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Chromosome 9 Open Reading Frame 72 (C9orf72)CLIA Kit Customized Service Offer
n/aELISA Kit for Chromosome 9 Open Reading Frame 72 (C9orf72)ELISA Kit Customized Service Offer
  1. "Expanded GGGGCC hexanucleotide repeat in noncoding region of C9orf72 causes chromosome 9p-linked FTD and ALS." Neuron 72:245-256(2011) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD." Neuron 72:257-268(2011) [PubMed] [Europe PMC] [Abstract]
  6. "Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide." Hum. Mutat. 34:79-82(2013) [PubMed] [Europe PMC] [Abstract]
  7. "C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking."Hum. Mol. Genet. 23:3579-3595(2014) [PubMed] [Europe PMC] [Abstract]
  8. "C9orf72 nucleotide repeat structures initiate molecular cascades of disease."Nature 507:195-200(2014) [PubMed] [Europe PMC] [Abstract]