Description :	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].
Source :	E. coli
Species :	Human
Tag :	His
Form :	25 mM Tris, pH 8.0, 500mM NaCl, 10% glycerol.
Molecular Mass :	24.6 kDa
Purity :	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration :	>50 ug/mL as determined by microplate BCA method

Gene Name	C9orf72 chromosome 9 open reading frame 72 [ Homo sapiens ]
Official Symbol	C9orf72
Synonyms	ALSFTD; DENNL72; FTDALS; FTDALS1
Gene ID	203228
mRNA Refseq	NM_145005.6
Protein Refseq	NP_659442
MIM	614260