C9ORF72 Protein (His tag)

Catalog No. ABIN2712986

Product Details

Target: C9ORF72 (Chromosome 9 Open Reading Frame 72 (C9ORF72))

Protein Type: Recombinant

Origin: Human

Source: Escherichia coli (E. coli)

Purification tag / Conjugate: This C9ORF72 protein is labelled with His tag.

Application: Antibody Production (AbP), Standard (STD)

Characteristics:

• Recombinant human C9orf72 (full length, N-term HIS tag, transcript variant 1) protein expressed in E.coli.
• Produced with end-sequenced ORF clone

Purity: > 80 % as determined by SDS-PAGE and Coomassie blue staining

Application Details

Application Notes: Recombinant human proteins can be used for:
Native antigens for optimized antibody production
Positive controls in ELISA and other antibody assays

Comment:

The tag is located at the N-terminal.

Restrictions: For Research Use only

Handling

Concentration: 50 μg/mL

Buffer: 25 mM Tris, pH 8.0, 500 mM NaCl, 10 % glycerol.

Storage: -80 °C

Storage Comment: Store at -80°C. Thaw on ice, aliquot to individual single-use tubes, and then re-freeze immediately. Only 2-3 freeze thaw cycles are recommended.

Target Details

Target: C9ORF72 (Chromosome 9 Open Reading Frame 72 (C9ORF72))

Alternative Name: c9orf72 (C9ORF72 Products)

Synonyms: CZH9orf72 Protein, ALSFTD Protein, FTDALS Protein, AI840585 Protein, c9orf72 Protein, chromosome Z C9orf72 homolog Protein, chromosome 9 open reading frame 72 Protein, RIKEN cDNA 3110043O21 gene Protein, similar to RIKEN cDNA 3110043O21 Protein, chromosome 9 open reading frame 72 L homeolog Protein, CZH9orf72 Protein, C9orf72 Protein, 3110043O21Rik Protein, RGD1359108 Protein, c9orf72.L Protein

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.

Molecular Weight: 24.6 kDa

NCBI Accession: NP_659442