C9orf72 Monoclonal Antibody

SKU: BT-MCA4576

Size:100μL

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.

Research_area:Epigenetics and nuclear signaling, Neuroscience

Target_protein:C9orf72

applications:WB, IHC, ICC, FCM

Reactivity:Human, Mouse, Monkey, Rat

Clonality:Monoclonal

Clone ID:6D6F12

Host:Mouse

Isotype:Mouse IgG2b

Gene Symbol/ Name:C9orf72

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

Storage:4°C|-20°C for long term storage

Purification:

Formulation:Purified antibody in PBS with 0.05% sodium azide

Concentration:

Molecular weight(Da):54.3kDa

UniProt accession:

Synonyms:ALSFTD, DENND9, FTDALS, DENNL72, FTDALS1

GeneID:203228