Human C9orf72 activation kit by CRISPRa

CAT#: GA116437

C9orf72 CRISPRa kit - CRISPR gene activation of human C9orf72-SMCR8 complex subunit

Product Images

Specifications

Product Data

• Format: 3gRNAs, 1 scramble ctrl and 1 enhancer vector
• Symbol: C9orf72
• Locus ID: 203228
• Kit Components:

  GA116437G1, C9orf72 gRNA vector 1 in pCas-Guide-CRISPRa

  GA116437G2, C9orf72 gRNA vector 2 in pCas-Guide-CRISPRa

  GA116437G3, C9orf72 gRNA vector 3 in pCas-Guide-CRISPRa

  1 CRISPRa-Enhancer vector, SKU GE100056

  1 CRISPRa scramble vector, SKU GE100058

• Disclaimer: The kit is designed based on the best knowledge of CRISPa SAM technology. The efficiency of the activation can be affected by many factors, including nucleosome occupancy status, chromatin structure and the gene expression level of the target, etc.

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]