CI072 Rabbit Polyclonal Antibody Sizes: 50μL, 100μL Catalogue Numbers: RA31620-50, RA31620-100 Lead times: 1-2 weeks, if manufacturer has product in stock Manufacturer/Ship Location: China 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], Reactivity: Human, Mouse, Rat Host: Rabbit Applications: WB Clonality: Polyclonal Dilution: WB 1：500-2000 Storage: -20°C/1 year Human Gene ID: 203228 Human SwissProt Number: Q96LT7 Condition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Research Use Only