Product Name :C9orf72 Recombinant Rabbit mAb (KU)
Swiss-Prot :Q96LT7, Q6DFW0, Q66HC3
Reactivity :Human, Mouse, Rat
Application_all :WB: 1:1000
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 :Store at -20°C. Supplied in 50mM Tris-Glycine(pH 7.4), 0.15M NaCl, 40%Glycerol, 0.01% sodium azide and 0.05% BSA. Stable for 12 months from date of receipt.
Purification&Purity :Affinity Purification
Storage&Stability :Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.
Note :For research use only, not for use in diagnostic procedure.
Alternative Name :ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1
Immunogen :Recombinant protein of human C9orf72
Modification :Unmodification
