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Antigenic Specificity | C9orf72 |
Clone | polyclonal |
Host Species | Rabbit |
Reactive Species | human |
Isotype | n/a |
Format | affinity purified |
Size | 0.1 mL, 0.2 mL |
Concentration | n/a |
Applications | Western Blot (WB) |
Reviews / Ratings | If you have used this antibody, please help fellow researchers by submitting reviews to pAbmAbs and antYbuddY. |
Description | The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple tran |
Immunogen | Immunogen: Recombinant protein of human C9orf72 |
Other Names | [ALSFTD; FTDALS] |
Gene, Accession # | [C9orf72], Gene ID: 203228, NCBI: NP_001242983.1, UniProt: Q96LT7 |
Catalog # | MBS9129079 |
Price | $275, $430 |
Order / More Info | C9orf72 Antibody from MYBIOSOURCE INC. |
Product Specific References | n/a |