PSEN1 Antibody

Datasheet
Code CSB-PA018846GA01HU
Product Type Purified Rabbit Anti Human,Mouse,Rat PolyClonal Antibody
Size US$685
Uniprot No. P49768
Immunogen Human PSEN1-Specific
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Tested Applications ELISA,WB
Storage Buffer PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Purification Method Antigen Affinity purified
Isotype IgG
Alias presenilin 1;PSEN1;AD3;FAD;PS1;S182 ;
Immunogen Species Homo sapiens (Human)
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Target Names PSEN1
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Target Details 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.
HGNC 9508
RGD 3425
MGI 1202717
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Function 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 (amyloid-beta precursor protein)
Involvement in disease Alzheimer disease 3 (AD3); Frontotemporal dementia (FTD); Cardiomyopathy, dilated 1U (CMD1U); Acne inversa, familial, 3 (ACNINV3)
Subcellular Location Endoplasmic reticulum membrane, Multi-pass membrane protein, Golgi apparatus membrane, Multi-pass membrane protein, Cytoplasmic granule, Cell membrane
Protein Families Peptidase A22A family
Tissue Specificity Detected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level) (PubMed:11987239). Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes (PubMed:7596406, PubMed:86
Database Links

HGNC: 9508

OMIM: 104311

KEGG: hsa:5663

STRING: 9606.ENSP00000326366

UniGene: Hs.3260

Pathway Notch signaling pathway
Wnt signaling pathway
Neurotrophin signaling pathway

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