C9orf72 Human Gene Knockout Kit (CRISPR)

CAT#: KN409700

C9orf72 - KN2.0, Human gene knockout kit via CRISPR, non-homology mediated.

Product Images

Specifications

Product Data

• Format: 2 gRNA vectors, 1 linear donor
• Donor DNA: EF1a-GFP-P2A-Puro
• Symbol: C9orf72
• Locus ID: 203228
• Disclaimer: The kit is designed based on the best knowledge of CRISPR technology. The system has been functionally validated for knocking-in the cassette downstream the native promoter. The efficiency of the knock-out varies due to the nature of the biology and the complexity of the experimental process.

Reference Data

• RefSeq: NM_001256054, NM_018325, NM_145005
• Synonyms: ALSFTD; DENNL72; FTDALS; FTDALS1
• 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]