|Application ||WB, ICC, E|
|Other Accession||NP_060795, 37039612|
|Reactivity||Human, Mouse, Rat|
|Calculated MW||Predicted: 53 kDa |
Observed: 52 kDa
|Application Notes||ALSFTD antibody can be used for the detection of ALSFTD by Western blot at 1 - 2 µg/mL. Antibody can also be used for immunocytochemistry at 10 µg/ml.|
|Target/Specificity||ALSFTD; ALSFTD antibody is human, mouse and rat reactive. At least two isoforms are known to exist.|
|Reconstitution & Storage||ALSFTD antibody can be stored at 4℃ for three months and -20℃, stable for up to one year.|
|Precautions||ALSFTD Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||May play a role in endosomal trafficking and autophagy.|
|Cellular Location||Nucleus. Cytoplasm. Endosome. Lysosome. Cytoplasmic vesicle, autophagosome. Secreted. Note=Detected in the cytoplasm of neurons from post mortem brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779).|
|Tissue Location||Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level).|
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Provided below are standard protocols that you may find useful for product applications.
ALSFTD (C9orf72) is considered to play a role in gender determination (1). Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG (2). Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster (3,4).
Takada LT and Sha SJ. Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease. Alzheimers Res. Ther. 2012; 4:38.
Coon EA, Whitwell JL, Parisi JE, et al. Right temporal variant frontotemporal dementia with motor neuron disease. J. Clin. Neurosci. 2012; 19:85-91.
Snowden JS, Rollinson S, Thompson JC, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 2012; 135:693-708.
Wen X, Tan W, Westergard T, et al. Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron 2014; 84:1213-25.
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