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SAB4200623

Sigma-Aldrich

Anti-C9orf72 antibody produced in rabbit

affinity isolated antibody

Synonym(s):

3110043O21Rik, AI840585, ALSFTD, C9orf72, FLJ11109, FTDALS, RGD1359108, RP23-307M2.1, zgc:100846

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

rabbit

Quality Level

200

antibody form

affinity isolated antibody

antibody product type

primary antibodies

form

buffered aqueous solution

mol wt

~55 kDa

species reactivity

human

concentration

~1 mg/mL

technique(s)

immunoblotting: 0.3-0.6 μg/mL using whole extracts of T98G cells
immunocytochemistry: 4-6 μg/mL using SH-SY-5Y cells
immunohistochemistry: 10 μg/mL using heat-retrieved formalin-fixed, paraffin-embedded human colon sections

UniProt accession no.

Q96LT7

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... C9orf72(203228)

General description

C9orf72 (chromosome 9 open reading frame 72) is a DENN domain containing protein. It is expressed in neuronal cell lines. It has been reported that C9orf72 colocalizes with Rab proteins, which indicates its role in autophagy and endocytic transport pathways.
Chromosome 9 open reading frame 72 (C9orf72) gene is mapped to human chromosome 9p21.

Specificity

Anti-C9orf72 recognizes human C9orf72.

Immunogen

synthetic peptide corresponding to the N-terminal region of human C9orf72

Application

Anti-C9orf72 antibody produced in rabbit may be used in:
  • immunoblotting
  • immunocytochemistry
  • immunohistochemistry

Biochem/physiol Actions

C9orf72 (chromosome 9 open reading frame 72) maintains a physical interaction with Rab proteins during autophagy, cellular trafficking and protein degradation. The cellular activities of the protein are not well defined. It has been reported that mutations of C9orf72 gene are associated with amyotrophic lateral sclerosis (ALS) with degeneration of upper and lower motor neurons in the brain, brainstem and spinal cord, leading to progressive paralysis and frontotemporal dementia.

Physical form

Solution in 0.01 M phosphate buffered saline, pH 7.4, containing 15 mM sodium azide as a preservative.

Storage and Stability

For continuous use, store at 2–8 °C for up to one month. For extended storage freeze in working aliquots. Repeated freezing and thawing is not recommended. If slight turbidity occurs upon prolonged storage, clarify the solution by centrifugation before use. Working dilution samples should be discarded if not used within 12 hours.

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.

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Storage Class Code

10 - Combustible liquids

WGK

nwg

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes
Busch J I, et al.
Human Molecular Genetics, 25(13), 2681-2697 (2016)
Gorana Mandic-Stojmenovic et al.
Dementia and geriatric cognitive disorders, 40(5-6), 358-365 (2015-09-25)
Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia (EOD), characterized by behavioral changes (behavioral variant; bvFTD) or language deficits. A hexanucleotide repeat expansion in a noncoding region of chromosome 9 open reading frame 72 (C9orf72) has
John D Cleary et al.
Human molecular genetics, 22(R1), R45-R51 (2013-08-07)
Well-established rules of translational initiation have been used as a cornerstone in molecular biology to understand gene expression and to frame fundamental questions on what proteins a cell synthesizes, how proteins work and to predict the consequences of mutations. For
Alan E Renton et al.
Neuron, 72(2), 257-268 (2011-09-29)
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present
Elisa Majounie et al.
The Lancet. Neurology, 11(4), 323-330 (2012-03-13)
We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We screened 4448 patients diagnosed with ALS
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