MyBioSource.com's Protein C9Orf72 Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Western Blot. The Protein C9Orf72 Antibody was generated using C9orf72, and Miscellaneous as the antigen and it reacts with Human.
Description
The most common mutations in familial Amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD) are observed in hexanucleotide repeat expansion (HRE), (GGGGCC)n, in C9Orf72 protein. The HREs form DNA-RNA G-quadruplexes which promotes the RNA-DNA hybrids or R-Loops). Distinct C9orf72 HRE structural polymorphism at DNA and RNA levels initiates molecular cascades leading to ALS/FTD pathologies (1). The C9Orf72 regulates endosomal trafficking and it co-localizes with Rab 1, 5, 7 and 11proteins implicated in autophagy and endocytic transport. C9Orf72 co-localized with ubiquilin 2 and autophagosome marker light chain 3 (LC3), suggesting that C9Orf72 regulates autophagy and Rab mediated cellular trafficking (2). Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS and FTD.
C9Orf72-selective antibodies were generated against a peptide taken from human C9Orf72 protein. The COrf72-selective antibodies are affinity purified on an immobilized antigen based affinity matrix, the isolated antibodies were then stabilized in antibody stabilization buffer for long-term storage. The anti-C9Orf72-selective antibodies are fully characterized for applications in western blotting and ELISA at the recommended dilutions