Description
General description
Guanine nucleotide exchange C9orf72 (UniProt: Q96LT7; also known as C9orf72) is encoded by the C9orf72 gene (Gene ID: 203228) in human. C9orf72 generates three transcripts through alternative splicing that encode 2 protein isoforms: a long isoform of about 54 kDa (termed C9-L), corresponding to variants 2 and 3, and a short isoform of about 24 kDa (termed C9-S) corresponding to variant 1. Both isoforms are widely expressed, including in kidney, lung, liver, heart, testis, and several brain regions. The long isoform of 481 amino acids is shown to be the predominant form that is expressed in human brain. Expansion of a GGGGCC (G4C2) hexanucleotide repeat sequence in the non-coding region of human C9orf72 is the most common genetic abnormality in familial and sporadic frontotemporal dementia (FTD) and motor neuron disease (MND), with amyotrophic lateral sclerosis (ALS) as the most frequent form. Both, C9-L and C9-S are reported to display distinct subcellular localizations in cerebellar Purkinje cells of both c9-ALS and non c9-ALS cases. C9-L is shown to be spread diffusely throughout the cytoplasm, whereas C9- S is localized to the nuclear membrane of Purkinje cells of both c9-ALS and non-c9-ALS cases. Also, C9-L is shown to be present mainly in the high-salt Triton and urea-soluble fractions, whereas C9-S is shown to be abundant in both the low- and high-salt Triton fractions, indicating differences in their subcellular localizations. (Ref.: Frick, P., et al. (2018). Acta Neuropathol. Commun. 6(1); 72).
Immunogen
Ovalbumin-conjugated linear peptide corresponding to 16 amino acids from the N-terminal half of human Guanine nucleotide exchange C9orf72.
Application
Quality Control Testing
Evaluated by Western Blotting in HEK293 cell lysate.
Western Blotting Analysis: A 1:250 dilution of this antibody detected C9orf72 in HEK293 cell lysate.
Tested Applications
Immunohistochemistry Applications: A representative lot detected C9orf72 in Immunohistochemistry applications (Frick, P., et al. (2018). Acta Neuropathol Commun. 6(1):72).
Western Blotting Analysis: A representative lot detected C9orf72 in Western Blotting applications (Frick, P., et al. (2018). Acta Neuropathol Commun. 6(1):72).
Immunofluorescence Analysis: A representative lot detected C9orf72 peptide 4 in Immunofluorescence applications (Frick, P., et al. (2018). Acta Neuropathol Commun. 6(1):72).
Immunocytochemistry Analysis: A representative lot detected C9orf72 peptide 4 in Immunocytochemistry applications (Frick, P., et al. (2018). Acta Neuropathol Commun. 6(1):72).
ELISA Analysis: A representative lot detected C9orf72 peptide 4 in ELISA applications (Frick, P., et al. (2018). Acta Neuropathol Commun. 6(1):72).
Note: Actual optimal working dilutions must be determined by end user as specimens, and experimental conditions may vary with the end user
Anti-C9orf72 peptide 4, clone 12E7, Cat. No. MABN2296, is a rat monoclonal antibody that detects C9orf72 and is tested for use in ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, and Western Blotting.
Biochem/physiol Actions
Clone 12E7 is a rat monoclonal antibody that detects Guanine nucleotide exchange C9orf72. It targets an epitope within 16 amino acids from the N-terminal half.
Physical form
Purified rat monoclonal antibody IgG1 in buffer containing 0.1 M Tris-Glycine (pH 7.4), 150 mM NaCl with 0.05% sodium azide.
Preparation Note
Recommend storage at +2°C to +8°C. For long term storage antibodies can be kept at -20°C. Avoid repeated freeze-thaws.
Other Notes
Concentration: Please refer to the Certificate of Analysis for the lot-specific concentration.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
