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). 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. Alternative splicing results in multiple transcript variants encoding different isoforms.

推荐稀释比 WB:1/500-1/1000;IHC:1/100-1/200;IF:1/50-1/200;FC:1/50-1/100;ELISA:1/10000

Western blot analysis of C9orf72 in C6 (1), PC-12 (2),COS-7 (3),NIH/3T3 (4) and SK-N-SH (5) cell lysate using C9orf72 antibody.

-25 ~ -15℃保存，收到货之后有效期1年，避免反复冻融。