Recombinant Human Presenilin 2 protein (ab114427)

Overview

  • Product name
    Recombinant Human Presenilin 2 protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQ ENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAK
    • Molecular weight
      35 kDa including tags
    • Amino acids
      1 to 86

Associated products

Specifications

Our Abpromise guarantee covers the use of ab114427 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • AD3L
    • AD3LP
    • AD4
    • AD5
    • Alzheimer disease 4
    • CMD1V
    • E5-1
    • OTTHUMP00000035671
    • OTTHUMP00000035672
    • OTTHUMP00000228286
    • OTTHUMP00000228288
    • Presenilin 2
    • Presenilin 2 (Alzheimer disease 4)
    • Presenilin-2 CTF subunit
    • PS-2
    • PS2
    • Psen2
    • PSN2_HUMAN
    • PSNL2
    • STM-2
    • STM2
    see all
  • Function
    Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins.
  • Tissue specificity
    Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney.
  • Involvement in disease
    Defects in PSEN2 are the cause of Alzheimer disease type 4 (AD4) [MIM:606889]. AD is an autosomal dominant Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.
    Defects in PSEN2 are the cause of cardiomyopathy dilated type 1V (CMD1V) [MIM:613697]. It is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
  • Sequence similarities
    Belongs to the peptidase A22A family.
  • Domain
    The PAL motif is required for normal active site conformation.
  • Post-translational
    modifications
    Heterogeneous proteolytic processing generates N-terminal and C-terminal fragments.
    Phosphorylated on serine residues.
  • Cellular localization
    Endoplasmic reticulum membrane. Golgi apparatus membrane.
  • Information by UniProt

Images

  • ab114427 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

References

ab114427 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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