C9orf72 antibody [GT1553]
Catalogue Number: GTX634482-GTX
| Manufacturer: | GeneTex |
| Preservative: | No Preservative |
| Physical state: | Liquid |
| Type: | Monoclonal Primary Antibody - Unconjugated |
| Alias: | C9orf72-SMCR8 complex subunit , ALSFTD , DENNL72 , FTDALS , FTDALS1 |
| Shipping Condition: | Blue Ice |
| Unit(s): | 100 ul, 25 ul |
| Host name: | Mouse |
| Clone: | GT1553 |
| Isotype: | IgG2a |
| 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
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]
Additional Text
Concentration
1 mg/ml
Uniprot ID
Q96LT7
Gene Name
C9orf72
Gene ID
203228
Molecular Weight
54
Purification
Protein A purified
Antibody Clonality
Monoclonal
Note
For In vitro laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption
Application Notes
WB: 1:100-1:1000. IHC-P: 1:100-1:1000. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.
Short Description
C9orf72 antibody detects the C9orf72 protein, which is 481 amino acids in length and has a predicted molecular weight of 54 kDa. The accumulation of abnormal nucleotide repeats in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), accounting for approximately 34.2% and 25.9% of cases according to van Blitterswijk et al. (PMID: 23160421).
GTX634482 Datasheet
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