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Official Symbol: | C9orf72 |
NCBI Gene ID: | 203228 |
Aliases: |
ALSFTD DENND9 DENNL72 FTDALS FTDALS1 |
Official Full Name: | C9orf72-SMCR8 complex subunit |
Species: | human |
Summary: | 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]. |
There is no existing raPOOL for your gene, hence a custom raPOOL set up service is required. Please add this to cart and proceed to choose the raPOOL scale required where 2, 5 or 10 nmol is sufficient for 20, 50 or 100 reactions with the recommended use of 100 pmol raPOOL per reaction.
Custom raPOOL Set Up Service
One-time raPOOL set up fee for a new gene. Price: € 529,00 |
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Includes design of new probes against target RNA. Charged on top of raPOOL 2, 5 or 10 price. Charged once only, subsequent order of raPOOL follows raPOOL-2, 5 or 10 pricing. |
raPOOL 10
10nmol raPOOL Price: € 1.155,00 |
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Amount provided: 10 nmol. Sufficient for 100 reactions. HPLC-purified, freeze-dried. |
raPOOL 2
2nmol raPOOL Price: € 325,00 |
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Amount provided: 2 nmol. Sufficient for 20 rxns. HPLC-purified, freeze-dried. |
raPOOL 5
5 nmol raPOOL Price: € 675,00 |
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Amount provided: 5 nmol. Sufficient for 50 reactions. HPLC-purified, freeze-dried. |