C9orf72 Polyclonal Antibody

Catalog Number:

29519

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot#:Q96LT7
NCBI Gene ID:203228

Form of Antibody:

Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.

Storage/Stability:

Immunogen:

Recombinant fusion protein of human C9orf72 (NP_060795.1).

Purification:

Affinity purification

Specificity/Sensitivity:

Applications:

WB,IHC

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.

References:

appl_detail:

WB 1:500 - 1:2000
IHC 1:50 - 1:100

Datasheet PDF