C9orf72

gene product
DENND9, 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]
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GeneTex
4 antibodies
Proteintech Group
3 antibodies
NovoPro Bioscience Inc.
4 antibodies
Novus Biologicals
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Invitrogen Antibodies
2 antibodies
antibodies-online
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1 antibody
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LifeSpan BioSciences, Inc.
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Abgent
2 antibodies
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1 antibody
ProSci
1 antibody
FabGennix
3 antibodies
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4 antibodies
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3 antibodies
Creative Diagnostics
6 antibodies
Acris Antibodies GmbH
1 antibody
Aviva Systems Biology
1 antibody
NSJ Bioreagents
1 antibody
OriGene
1 antibody
MyBioSource
4 antibodies
Cell Signaling Technology, Inc
1 antibody
St John's Laboratory
1 antibody
Sigma-Aldrich
1 antibody
United States Biological
13 antibodies
Abbexa
3 antibodies