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.
Purified antibody in PBS with 0.05% sodium azide
4℃; -20℃ for long term storage
Figure 1:Black line: Control Antigen (100 ng);Purple line: Antigen (10ng); Blue line: Antigen (50 ng); Red line:Antigen (100 ng)
Figure 2:Western blot analysis using C9orf72 mAb against human C9orf72 (AA: 110-199) recombinant protein. (Expected MW is 24 kDa)
Figure 3:Western blot analysis using C9orf72 mAb against HEK293 (1) and C9orf72 (AA: 110-199)-hIgGFc transfected HEK293 (2) cell lysate.
Figure 4:Flow cytometric analysis of Hela cells using C9orf72 mouse mAb (green) and negative control (red).
Figure 5:Immunohistochemical analysis of paraffin-embedded lung cancer tissues using C9orf72 mouse mAb with DAB staining.
Figure 6:Immunohistochemical analysis of paraffin-embedded cervical cancer tissues using C9orf72 mouse mAb with DAB staining.
Figure 7:Immunohistochemical analysis of paraffin-embedded rat kidney tissues using C9orf72 mouse mAb with DAB staining.
For Research Use Only. Not for use in diagnostic procedures.