BT-MCA4576

Mouse

Mouse IgG2b

100μL,50μL

Monoclonal

Purified recombinant fragment of human C9orf72 (AA: 110-199) expressed in E. Coli.

Purified antibody in PBS with 0.05% sodium azide

Store at 4°C short term. Aliquot and store at -20°C long term.

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.

54.3kDa

203228

ALSFTD;DENND9;FTDALS;DENNL72;FTDALS1

Epigenetics and nuclear signaling,Neuroscience

C9orf72