Recombinant Human PSEN1

• Cat.No.: PSEN1-29963TH
• Product Overview: Recombinant fragment of Human Presenilin 1 with N terminal proprietary tag, 36.63kDa inclusive of tag.

Specification

• Description: Alzheimers 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.
• Protein length: 100 amino acids
• Molecular Weight: 36.630kDa inclusive of tags
• Source: Wheat germ
• Tissue specificity: Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes.
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: PALIYSSTMVWLVNMAEGDPEAQRR VSKNSKYNAESTERESQDTVAENDD GGFSEEWEAQRDSHLGPHRSTPESR AAVQELSSSILAGEDPEERGVKLGL
• Sequence Similarities: Belongs to the peptidase A22A family.

Gene Information

• Gene Name: PSEN1 presenilin 1 [ Homo sapiens ]
• Official Symbol: PSEN1
• Synonyms: PSEN1; presenilin 1; AD3, Alzheimer disease 3; presenilin-1; FAD; PS1; S182
• Gene ID: 5663
• mRNA Refseq: NM_000021
• Protein Refseq: NP_000012
• MIM: 104311
• Uniprot ID: P49768
• Chromosome Location: 14q24.3
• Pathway: A third proteolytic cleavage releases NICD, organism-specific biosystem; Alzheimers disease, organism-specific biosystem; Alzheimers disease, conserved biosystem; Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem; Delta-Notch Signaling Pathway, organism-specific biosystem
• Function: PDZ domain binding; aspartic-type endopeptidase activity; beta-catenin binding; cadherin binding; calcium channel activity