C9orf72 antibody [GT779-RB]

Catalogue Number: GTX635397-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: GT779-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

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

Molecular Weight

54

Gene ID

203228

Purification

Protein A purified

Gene Name

C9orf72

Antibody Clonality

Recombinant 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: 1:500. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.