Catalogue Number: GTX635398-GTX
Manufacturer: | GeneTex |
Preservative: | No Preservative |
Physical state: | Liquid |
Type: | Recombinant Monoclonal |
Alias: | C9orf72-SMCR8 complex subunit , ALSFTD , DENNL72 , FTDALS , FTDALS1 |
Shipping Condition: | Blue Ice |
Unit(s): | 100 ul, 25 ul |
Host name: | Rabbit |
Clone: | GT1553-RB |
Isotype: | IgG |
Immunogen: | Recombinant protein encompassing a sequence within the N-terminus region of human C9orf72. The exact sequence is proprietary. |
Application: | ICC, IF, IHC-P, WB |
Description: 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. [provided by RefSeq, Jul 2016]
1 mg/ml
Q96LT7
54
203228
Protein A purified
C9orf72
Recombinant Monoclonal
For In vitro laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption
WB: 1:500-1:3000. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.