Recombinant Human C9orf72 Protein, GST-Tagged

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Recombinant Human C9orf72 Protein, GST-Tagged

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Cat.No. : C9orf72-0211H
Product Overview : Human C9orf72 full-length ORF (NP_060795.1, 1 a.a. - 481 a.a.) recombinant protein with GST tag at N-terminal.
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 : Wheat Germ
Species : Human
Tag : GST
Molecular Mass : 80.7 kDa
AA Sequence : MSTLCPPPSP AVAKTEIALS GKSPLLAATF AYWDNILGPR VRHIWAPKTE QVLLSDGEIT FLANHTLNGE ILRNAESGAI DVKFFVLSEK GVIIVSLIFD GNWNGDRSTY GLSIILPQTE LSFYLPLHRV CVDRLTHIIR KGRIWMHKER QENVQKIILE GTERMEDQGQ SIIPMLTGEV IPVMELLSSM KSHSVPEEID IADTVLNDDD IGDSCHEGFL LNAISSHLQT CGCSVVVGSS AEKVNKIVRT LCLFLTPAER KCSRLCEAES SFKYESGLFV QGLLKDSTGS FVLPFRQVMY APYPTTHIDV DVNTVKQMPP CHEHIYNQRR YMRSELTAFW RATSEEDMAQ DTIIYTDESF TPDLNIFQDV LHRDTLVKAF LDQVFQLKPG LSLRSTFLAQ FLLVLHRKAL TLIKYIEDDT QKGKKPFKSL RNLKIDLDLT AEGDLNIIMA LAEKIKPGLH SFIFGRPFYT SVQERDVLMT F
Applications : Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
Notes : Best use within three months from the date of receipt of this protein.
Storage : Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
Storage Buffer : 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Quality Control Testing :

12.5% SDS-PAGE Stained with Coomassie Blue

Gene Name : C9orf72 chromosome 9 open reading frame 72 [ Homo sapiens (human) ]
Official Symbol : C9orf72
Synonyms : C9orf72; chromosome 9 open reading frame 72; ALSFTD; FTDALS; DENNL72; FTDALS1; guanine nucleotide exchange C9orf72; protein C9orf72; Chromosome 9 Open Reading Frame 72; Guanine Nucleotide Exchange C9orf72; Protein C9orf72; DENNL72; FTDALS1; ALSFTD; FTDALS
Gene ID : 203228
mRNA Refseq : NM_001256054
Protein Refseq : NP_001242983
MIM : 614260
UniProt ID : Q96LT7

Products Types

◆ Recombinant Protein

C9orf72-2037HRecombinant Human C9orf72 Protein, His-tagged+Inquiry

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