Validation Data Gallery
|Positive WB detected in||mouse brain tissue, HEK-293 cells, SH-SY5Y cells|
|Positive IHC detected in||human gliomas tissue, human testis tissue|
Note: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0
|Positive IF detected in||mouse brain tissue|
|Western Blot (WB)||WB : 1:300-1:1500|
|Immunohistochemistry (IHC)||IHC : 1:500-1:2000|
|Immunofluorescence (IF)||IF : 1:50-1:500|
|Sample-dependent, check data in validation data gallery|
The immunogen of 25757-1-AP is C9orf72 Fusion Protein expressed in E. coli.
|Tested Reactivity||human, mouse|
|Cited Reactivity||human, rat|
|Host / Isotype||Rabbit / IgG|
|Immunogen||C9orf72 fusion protein Ag22723|
|Full Name||chromosome 9 open reading frame 72|
|Calculated molecular weight||481 aa, 54 kDa|
|Observed molecular weight||25-30 kDa|
|GenBank accession number||BC068445|
|Gene ID (NCBI)||203228|
|Purification Method||Antigen affinity purification|
|Storage Buffer||PBS with 0.02% sodium azide and 50% glycerol pH 7.3.|
|Storage Conditions||Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage. 20ul sizes contain 0.1% BSA.|
C9ORF72 has a domain whith polymorphic hexanucleotide repeat (GGGGCC). The C9ORF72-hexanucleotide repeat expansions have been recently identified as genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The C9ORF72 repeat expansions may indicate a worse prognosis in ALS. Human C9ORF72 has some isoforms with MW 54-60 kDa and 25-30 kDa. Mouse C9orf72 has some isoforms with MW 50-60 kDa and 35 kDa. This antibody detects the N-terminal of C9orf72.
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72.
C9orf72 regulates the unfolded protein response and stress granule formation by interacting with eIF2α
Front Cell Neurosci
Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation
C9orf72 protein quality control by UBR5-mediated heterotypic ubiquitin chains