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Antigenic Specificity | C9orf72 |
Clone | polyclonal |
Host Species | Rabbit |
Reactive Species | human, mouse |
Isotype | n/a |
Format | affinity purified |
Size | 0.1 mL |
Concentration | 2.64 mg/ml |
Applications | Western Blot (WB), Immunohistochemistry (IHC) |
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 GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic 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 spl |
Immunogen | Immunogen: Recombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human C9orf72 (NP 060795.1). Immunogen Sequence: MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQT |
Other Names | [C9orf72; ALSFTD; DENNL72; FTDALS; FTDALS1; protein C9orf72] |
Gene, Accession # | [C9orf72], Gene ID: 203228, NCBI: NP_060795, UniProt: Q96LT7 |
Catalog # | MBS9140659 |
Price | $260 |
Order / More Info | C9orf72 Antibody from MYBIOSOURCE INC. |
Product Specific References | n/a |