C9ORF72 Antibody

• Gene Name:

  Chromosome 9 open reading frame 72

• Gene Aliases:

  ALSFTD, DENND9, FTDALS, DENNL72, FTDALS1

• Gene ID:

  203228

• Accession Number:

  NP_001242983.1

• Reactivity:

  Human, Mouse, Rat

• Immunogen:

  The immunogen used to generate this antibody corresponds to human C9orf72

• Target:

  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) . 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. Alternative splicing results in multiple transcript variants encoding different isoforms.

• Clonality:

  Monoclonal

• Clone:

  GT779

• Type:

  Monoclonal Antibody

• Applications:

  ICC, IF, IHC-P, IP, WB

• Purification:

  Affinity purified by Protein G.

• Assay Protocol:

  Reconstitution & Storage Instructions Western Blotting/Immunoblotting (WB/IB) Protocol Immunohistochemistry (IHC) Protocol Immunocytochemistry (ICC) Protocol Enzyme-Linked ImmunoSorbent Assay (ELISA) Protocol Blocking Peptide Competition Protocol (BPCP) Immunoprecipitation (IP) Protocol Antibody Array (AA) Protocol Reconstitution & Storage Instructions Reconstitution & Storage Instructions Western Blotting/Immunoblotting (WB/IB) Protocol Western Blotting/Immunoblotting (WB/IB) Protocol Immunohistochemistry (IHC) Protocol Immunohistochemistry (IHC) Protocol Immunocytochemistry (ICC) Protocol Immunocytochemistry (ICC) Protocol Enzyme-Linked ImmunoSorbent Assay (ELISA) Protocol Enzyme-Linked ImmunoSorbent Assay (ELISA) Protocol Blocking Peptide Competition Protocol (BPCP) Blocking Peptide Competition Protocol (BPCP) Immunoprecipitation (IP) Protocol Immunoprecipitation (IP) Protocol Antibody Array (AA) Protocol Antibody Array (AA) Protocol

• Concentration:

  1 mg/ml

• Format:

  Liquid//PBS

• Buffer:

  PBS

• Reconstitution:

  Keep as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4C. For long-term storage, aliquot and store at -20C or below. Avoid multiple freeze/thaw cycles.

• Molecular Weight:

  54 kDa

• Fragment:

  IgG1

• Specificity:

  Knockdown/Knockout validation was supported by customer review data.

• NCBI Gene Symbol:

  C9ORF72

• Host or Source:

  Mouse

• Protein Name:

  Guanine nucleotide exchange C9orf72

• Gene Name URL:

  C9ORF72

• CAS Number:

  9007-83-4

• Nucleotide Accession Number:

  NM_001256054.2