C9orf72 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ELISA, ICC/IF, IHC, WB
Recommend Dilution	WB,1:500 - 1:1000 IHC-P,1:50 - 1:200 IF/ICC,1:50 - 1:200 ELISA,Recommended starting concentration is 1 μg/mL. Please optimize the concentration based on your specific assay requirements.
Reactivity	Human, Mouse, Rat
Modifications	Unmodified
Host	Rabbit
Clonality	Polyclonal
Isotype	IgG
Formulation	Buffer: PBS with 0.01% thimerosal,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	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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