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| Product Data | |
| Description | Recombinant protein of human presenilin 1 (PSEN1), transcript variant 1 |
| Species | Human |
| Expression Host | HEK293T |
| Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC216443. Click on the TrueORF clone link to view cDNA and protein sequences. |
| Tag | C-Myc/DDK |
| Predicted MW | 52.5 kDa |
| Concentration | >50 ug/mL as determined by microplate BCA method |
| Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| Buffer | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
| Reference Data | |
| Locus ID | 5663 |
| Refseq Size | 2763 |
| Cytogenetics | 14q24.2 |
| Refseq ORF | 1401 |
| Synonyms | ACNINV3; AD3; FAD; PS-1; PS1; S182 |
| Summary | Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] |
| Protein Families | Druggable Genome, Protease, Transmembrane |
| Protein Pathways | Alzheimer's disease, Neurotrophin signaling pathway, Notch signaling pathway, Wnt signaling pathway |
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