CI072

BT-AP07797

Rabbit

IgG

20ul,50ul,100ul

Polyclonal

Synthesized peptide derived from human CI072

The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

1 mg/ml

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

-20°C for 1 year

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.

Human: Q96LT7; Mouse: Q6DFW0; Rat: Q66HC3;

52910

Human: 203228; Rat: 313155

CI072

Epigenetics and nuclear signaling; Neuroscience

C9orf72