C9orf72 (NM_145005) Human Tagged ORF Clone Lentiviral Particle

CAT#: RC222418L1V

Lenti ORF particles, C9orf72 (Myc-DDK-tagged)-Human chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, 200ul, >10^7 TU/mL

Specifications

Product Data

• Type: Human Tagged ORF Clone Lentiviral Particle
• Tag: Myc-DDK
• Symbol: C9orf72
• Synonyms: ALSFTD; DENND9; DENNL72; FTDALS; FTDALS1
• Mammalian Cell Selection: None
• Vector: pLenti-C-Myc-DDK
• ACCN: NM_145005
• ORF Size: 666 bp
• Sequence Data:
  ORF Nucleotide Sequence

  The ORF insert of this clone is exactly the same as(RC222418).
• OTI Disclaimer: The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
• OTI Annotation: This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.

Reference Data

• RefSeq: NM_145005.3
• RefSeq Size: 1882 bp
• RefSeq ORF: 669 bp
• Locus ID: 203228
• UniProt ID: Q96LT7
• Cytogenetics: 9p21.2
• MW: 24.6 kDa
• Gene 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]