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C9ORF72 Products

(Chromosome 9 Open Reading Frame 72 (C9ORF72))

Categories

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. [provided by RefSeq, Dec 2011].

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Featured C9ORF72 Categories

C9ORF72 Antibodies

High quality antibodies with extensive validation data.

C9ORF72 Proteins

Proteins for various applications incl. WB, ELISA, IF etc.

Recommended C9ORF72 Antibodies

Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Application WB, IHC, IF
Validations
  • (7)
Cat. No. ABIN7266391
Quantity 100 μL
Datasheet Datasheet
Reactivity Human
Application ELISA, IHC, IF
Validations
  • (3)
Cat. No. ABIN7154647
Quantity 100 μg
Datasheet Datasheet
Reactivity Human, Mouse, Rat
Application WB, ELISA, FACS, IF (cc), IF (p), IHC (p), ICC, IHC (fro)
Validations
  • (3)
Cat. No. ABIN1386141
Quantity 100 μL
Datasheet Datasheet

Recommended C9ORF72 ELISA Kits

Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
  • (1)
Cat. No. ABIN6975496
Quantity 96 tests
Datasheet Datasheet

Recommended C9ORF72 Proteins

Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Source Escherichia coli (E. coli)
Validations
  • (1)
Cat. No. ABIN7122395
Quantity 50 μg
Datasheet Datasheet
Reactivity Human
Source Wheat germ
Validations
  • (1)
Cat. No. ABIN1347724
Quantity 25 μg
Datasheet Datasheet
Reactivity Human
Source Tobacco (Nicotiana tabacum)
Validations
  • (1)
Cat. No. ABIN3091442
Quantity 1 mg
Datasheet Datasheet

Latest Publications for our C9ORF72 products

Conlon, Fagegaltier, Agius, Davis-Porada, Gregory, Hubbard, Kang, Kim, Phatnani, Kwan, Sareen, Broach, Simmons, Arcila-Londono, Lee, Van Deerlin, Shneider, Fraenkel, Ostrow, Baas, Zaitlen, Berry et al.: "Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism. ..." in: eLife, Vol. 7, (2019) (PubMed).

Davidson, Robinson, Rollinson, Pickering-Brown, Xiao, Robertson, Mann: "Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies." in: Amyotrophic lateral sclerosis & frontotemporal degeneration, Vol. 19, Issue 1-2, pp. 102-111, (2018) (PubMed).

Sullivan, Zhou, Robins, Paushter, Kim, Smolka, Hu: "The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway." in: Acta neuropathologica communications, Vol. 4, Issue 1, pp. 51, (2017) (PubMed).

Burberry, Suzuki, Wang, Moccia, Mordes, Stewart, Suzuki-Uematsu, Ghosh, Singh, Merkle, Koszka, Li, Zon, Rossi, Trowbridge, Notarangelo, Eggan: "Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease." in: Science translational medicine, Vol. 8, Issue 347, pp. 347ra93, (2017) (PubMed).

Wen, Tan, Westergard, Krishnamurthy, Markandaiah, Shi, Lin, Shneider, Monaghan, Pandey, Pasinelli, Ichida, Trotti: "Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death." in: Neuron, Vol. 84, Issue 6, pp. 1213-25, (2014) (PubMed).

Snowden, Rollinson, Thompson, Harris, Stopford, Richardson, Jones, Gerhard, Davidson, Robinson, Gibbons, Hu, DuPlessis, Neary, Mann, Pickering-Brown: "Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations." in: Brain : a journal of neurology, Vol. 135, Issue Pt 3, pp. 693-708, (2012) (PubMed).

Satoh, Tabunoki, Ishida, Saito, Arima: "Dystrophic neurites express C9orf72 in Alzheimer's disease brains." in: Alzheimer's research & therapy, Vol. 4, Issue 4, pp. 33, (2012) (PubMed).

Brettschneider, Van Deerlin, Robinson, Kwong, Lee, Ali, Safren, Monteiro, Toledo, Elman, McCluskey, Irwin, Grossman, Molina-Porcel, Lee, Trojanowski: "Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion." in: Acta neuropathologica, Vol. 123, Issue 6, pp. 825-39, (2012) (PubMed).

Synonyms and alternative names related to 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, ALSFTD, c9orf72, CZH9orf72, FTDALS

Protein level used designations for C9ORF72

  • protein C9orf72
  • protein C9orf72 homolog
  • uncharacterized protein LOC496290
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