Clone Name: GT1553-RB
Light Chain: Kappa
Application Note: WB: 1:500-1:3000. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.
Calculated MW: 54
Form: Liquid
Buffer (with preservative): PBS, no preservative.
Concentration: 1 mg/ml (Please refer to the vial label for the specific concentration.)
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. [provided by RefSeq, Jul 2016]
Uniprot ID: Q96LT7
Antigen Species: Human
Immunogen: Recombinant protein encompassing a sequence within the N-terminus region of human C9orf72. The exact sequence is proprietary.
Purification: Affinity purified by Protein A.
Conjugation: Unconjugated
Full Name: C9orf72-SMCR8 complex subunit
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