C9orf72 (NM_018325) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression Host	E. coli
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) A DNA sequence encoding human full-length C9orf72
Tag	N-His
Predicted MW	54.1 kDa
Concentration	>0.05 µg/µL as determined by microplate BCA method
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer	25 mM Tris-HCl, pH 8.0, 150 mM NaCl, 1% sarkosyl, 10% glycerol
Note	For testing in cell culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process.
Storage	Store at -80°C.
Stability	Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
Reference Data
RefSeq	NP_060795
Locus ID	203228
UniProt ID	Q96LT7
Refseq Size	3244
Cytogenetics	9p21.2
Refseq ORF	1443
Synonyms	ALSFTD; DENND9; 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]

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