BackgroundThe 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.
DescriptionC9orf72 Polyclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationBuffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
SpecificityHuman, Mouse, Rat
IsotypeIgG
Uniprot IDQ96LT7
PurificationAffinity Purification
ImmunogenRecombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human C9orf72 (NP_060795.1).
StorageShipped at 4°C. Upon receipt, store at -20°C. Avoid freeze / thaw cycles
Alternative NamesC9orf72; ALSFTD; DENNL72; FTDALS; FTDALS1; protein C9orf72
ApplicationWB, IHC, IF