CI072 Rabbit Polyclonal Antibody

Ab type

Primary antibody

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.

Reactivity

Human, Mouse, Rat

Clonality

Polyclonal

Host

Rabbit

Isotype

IgG

Immunogen

Synthesized peptide derived from human CI072

Storage Stability

-20°C for 1 year

Concentration

1 mg/ml

MolecularWeight_Da

52910

synonyms

CI072