C9orf72 Rabbit pAb (APR22561N)

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 splicing results in multiple transcript variants encoding different isoforms.

We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality C9orf72 Rabbit pAb (APR22561N) .

C9orf72; ALSFTD; DENNL72; FTDALS; FTDALS1

203228

Q96LT7

Cytoplasm, Cytoplasmic vesicle, Endosome, Lysosome, Nucleus, Secreted, autophagosome

WB 1:500 - 1:2000 IHC 1:50 - 1:100 IF 1:50 - 1:200

Liquid

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Calculated MW: 24kDa/54kDa Observed MW: 50KDa

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=203228

https://www.uniprot.org/uniprot/Q96LT7

MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQT