Product Name :C9orf72 Recombinant Rabbit mAb (KU)
Swiss-Prot :Q96LT7, Q6DFW0, Q66HC3
Reactivity :Human, Mouse, Rat
Application_all :WB,1:500 - 1:2000
Background :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. [provided by RefSeq, Jul 2016]
Product :1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
Purification&Purity :The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Storage&Stability :Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.
Specificity :Polyclonal Antibodies
Note :For research use only, not for use in diagnostic procedure.
Alternative Name :HCK;JTK9;p59Hck;p61Hck
Immunogen :Recombinant fusion protein of human HCK(NP_001165600.1).
Modification :Unmodification
