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C9orf72 Antibody #64196

Filter:
  • WB
Western Blotting Image 1: C9orf72 Antibody
Western blot analysis of extracts from various cell lines and tissues using C9orf72 Antibody (upper) and β-Actin (D6A8) Rabbit mAb #8457 (lower).

To Purchase # 64196

Cat. # Size Qty. Price
64196S 100 µl
$378

Product Specifications

REACTIVITY H M R
SENSITIVITY Endogenous
MW (kDa) 49
SOURCE Rabbit
Application Key:
  • WB-Western Blotting 
Species Cross-Reactivity Key:
  • H-Human 
  • M-Mouse 
  • R-Rat 
  • Related Products

Product Information

Product Usage Information

Application Dilution
Western Blotting 1:1000

Storage

Supplied in 10 mM sodium HEPES (pH 7.5), 150 mM NaCl, 100 µg/ml BSA and 50% glycerol. Store at –20°C. Do not aliquot the antibody.

Protocol

Specificity / Sensitivity

C9orf72 Antibody recognizes endogenous levels of total C9orf72 protein.

Species Reactivity:

Human, Mouse, Rat

Source / Purification

Polyclonal antibodies are produced by immunizing animals with a synthetic peptide corresponding to residues surrounding Ala202 of human C9orf72 protein. Antibodies are purified by protein A and peptide affinity chromatography.

Background

The expansion of hexanucleotide GGGGCC repeats in the C9orf72 gene causes chromosome 9p-linked neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (1,2). The specific mechanism by which of these repeats contributes to disease etiology is currently an active area of investigation (3). Several gain of function mechanisms have been proposed. These mechanisms include toxicity from C9orf72 RNA containing the hexanucleotide repeats (4) and toxicity generated from dipeptide repeat proteins produced by repeat-associated non-ATG translation (5). In addition to gain of function mechanisms, the genetic hexanucleotide repeat expansions may cause a loss of function of the C9orf72 protein. C9orf72 contains a predicted DENN (differentially expressed in normal and neoplastic cells) domain that typically functions as guanine exchange factors for Rab GTPases, proteins that play key regulatory roles in membrane trafficking (6). Consistent with C9orf72 normally functioning in membrane trafficking, biochemical and genetic studies revealed that C9orf72 forms a protein complex with Sim-Magenis chromosome region 8 (SMCR8) and WD repeat-containing protein 41 (WDR41) to regulate the autophagy-lysosomal pathway (7), suggesting that C9orf72-dependent alterations in the autophagy-lysosomal pathway might contribute to ALS/FTD pathology.
For Research Use Only. Not for Use in Diagnostic Procedures.
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