C9orf72 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ICC/IF, IHC, WB
Recommend Dilution	WB,1:500 - 1:2000 IHC,1:50 - 1:100 IF,1:50 - 1:200
Reactivity	Human, Mouse, Rat
Modifications	Unmodified
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human C9orf72 (NP_060795.1).
Formulation	Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	24kDa/54kDa
Gene Name	chromosome 9 open reading frame 72
Database Link	Entrez Gene 203228 Human UniProt ID Q96LT7
Background	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.
Synonyms	MGC23980; OTTHUMP00000021172; RP11-27J8.2
Reference Data

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