Tissue expression
Cell line expression
Protein structure
C9orf72
C9orf72-SMCR8 complex subunitDENND9, DENNL72, MGC23980
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]
Top validated antibodies |
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Proteintech Group | 22637-1-AP | 24 references | Polyclonal |
WB
EL
ICC
IP
IHC
|
|
Invitrogen Antibodies | 22637-1-AP | Polyclonal |
WB
ICC
IP
IHC
OA
|
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GeneTex | GTX119776 | 6 references | Polyclonal |
WB
ICC
IHC
|
|
Novus Biologicals | NBP1-93504 | 5 references | Polyclonal |
WB
ICC
IHC
|
|
NovoPro Bioscience Inc. | 107029 | Monoclonal |
WB
EL
ICC
IP
IHC
|
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Supportive data in Antibodypedia
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