GTX634482 WB Image
GTX634482 WB Image
C9orf72 antibody [GT1553]
GTX634482
Product group Antibodies
Overview
- SupplierGeneTex
- Product NameC9orf72 antibody [GT1553]
- Delivery Days Customer9
- CertificationResearch Use Only
- Clone IDGT1553
- Concentration1 mg/ml
- IsotypeIgG
- Scientific DescriptionThe 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. [provided by RefSeq, Jul 2016]
- Storage Instruction2°C to 8°C,-20°C
- UNSPSC12352203
References
- Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72. Laflamme C et al., 2019 Oct 15, ElifeRead more
- Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels. Xiao S et al., 2019 Oct 24, Acta Neuropathol CommunRead more