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.

Classification:

Primary antibody

Alternative names:

CI072

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Isotype:

IgG

Immunogen:

Synthesized peptide derived from human CI072

Concentration:

1 mg/ml

Molecular weight:

52910

Applications:

WB

Storage:

-20°C for 1 year

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