Molecular weight (DA)
50kD
Immunogen
The antiserum was produced against synthesized peptide derived from human Presenilin 2 around the phosphorylation site of Ser330. AA range:296-345
Specificity
Phospho-Presenilin 2 (S330) Polyclonal Antibody detects endogenous levels of Presenilin 2 protein only when phosphorylated at S330.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/5000.. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or 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 act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008],
Function
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.,disease:Three causative genes have been identified that when mutated lead to presenile Alzheimer disease: APP (amyloid precursor protein gene), PSEN1 and PSEN
Protein name
Presenilin-2
Abbreviation
Presenilin 2
Other name
PSEN2; AD4; PS2; PSNL2; STM2; Presenilin-2; PS-2; AD3LP; AD5; E5-1; STM-2
Fields
>>Notch signaling pathway;>>Neurotrophin signaling pathway;>>Alzheimer disease;>>Pathways of neurodegeneration - multiple diseases
Human protein sequence Database
P49810
Mouse protein sequence database
Q61144
Rat protein sequence database
O88777
Cellular localization
Endoplasmic reticulum membrane ; Multi-pass membrane protein . Golgi apparatus membrane ; Multi-pass membrane protein .
Tissue expression
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.
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