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Key Specifications Table
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H, Mk | WB, ICC | Rb | Serum | Polyclonal Antibody |
| Description | |
|---|---|
| Catalogue Number | AB3598 |
| Brand Family | Chemicon® |
| Trade Name |
|
| Description | Anti-Mitochondria Antibody |
| Background Information | Presenilin 1 is a protein found in brain cells. Presenilin 1 has a major influence on the risk of contracting alzheimers disease. Its function is unknown. However, it may be involved in protein production and trafficking, especially during early development. More than 40 different mutations have been found in the presenilin 1 gene, and these mutations associate with early-onset familial alzheimers disease. Mutations in presenilin 1 tend to elevate levels of amyloid beta in the blood, cerebrospinal fluid, and brains of those affected by mutations |
| Product Information | |
|---|---|
| Format | Serum |
| Control |
|
| Presentation | Rabbit serum preabsorbed against immunogen peptide. Liquid. Contains 0.01% sodium azide. |
| Quality Level | MQ100 |
| Applications | |
|---|---|
| Application | Anti-Mitochondria Antibody is an antibody against Mitochondria for use in WB & IC. |
| Key Applications |
|
| Application Notes | Immunoblotting: 1:500-1:1000 Immunocytochemistry: 1:100-1:300 on COS7, HeLa, 293 and SK-N-MC cell lines. Optimal working dilutions must be determined by the end user. |
| Biological Information | |
|---|---|
| Immunogen | Presenilin 1 peptide conjugated to KLH. |
| Host | Rabbit |
| Specificity | Mitochondria. Recognizes a 62 kD protein of immunoblots of subcellular fractions enriched in mitochondrial fractions. The antibody shows a moderate titer by ELISA to the immunogen peptide but does not immunoblot any expected presenilin 1 bands. Immunocytochemistry with the serum revealed a mitochondria-like staining that was still present after exhaustive preabsorption with the peptide. The staining co-localizes with CHEMICONs anti-mitochondria antibody MAB1273. |
| Species Reactivity |
|
| Antibody Type | Polyclonal Antibody |
| Entrez Gene Number |
|
| Entrez Gene Summary | 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. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined. |
| Gene Symbol |
|
| UniProt Number |
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| UniProt Summary | FUNCTION: SwissProt: P49768 # 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. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis. SIZE: 467 amino acids; 52668 Da SUBUNIT: Homodimer. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity. Other components which are associated with the complex include SLC25A64, SLC5A7, PHB and PSEN1 isoform 3. Predominantly heterodimer of a N-terminal (NTF) and a C-terminal (CTF) endoproteolytical fragment. Associates with proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP). Associates with NOTCH1. Component of cadherin/catenin adhesion complexes through direct binding to CDH1 or CDH2. Interaction with CDH1 stabilizes the complex and stimulates cell-cell aggregation. Interaction with CDH2 is essential for trafficking of CDH2 from the endoplasmic reticulum to the plasma membrane. Interacts with CTNND2, CTNNB1, HERPUD1, FLNA, FLNB, MTCH1, PKP4 and PARL. Interacts through its N-terminus with isoform 3 of GFAP. Interacts with DOCK3 (By similarity). SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell surface. Note=Bound to NOTCH1 also at the cell surface. Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane. Also present in azurophil granules of neutrophils. TISSUE SPECIFICITY: Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes. DOMAIN: SwissProt: P49768 The PAL motif is required for normal active site conformation. PTM: Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1- CTF12. & After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis. DISEASE: SwissProt: P49768 # Defects in PSEN1 are a cause of familial early-onset Alzheimer disease type 3 (AD3) [MIM:607822]. AD3 is the most severe form of the disease, with complete penetrance and an onset occurring as early as 30 years of age. The second form is late- onset AD (LOAD), with mean age of onset greater than 58 years. AD is an autosomal dominant neurodegenerative disorder characterized by progressive dementia, parkinsonism, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major protein found within these deposits is a small, insoluble and highly aggregating polypeptide, beta-amyloid protein (beta- APP42). Defects in PSEN1 result in an overproduction of beta- APP42. Variant Pro-166, a very aggressive mutation that causes onset of AD3 in adolescence, not only induces an exceptionally high increase of beta-APP42 production, but also impairs Notch intracellular domain production and Notch signaling, as well as beta-APP intracellular domain generation. & Defects in PSEN1 are a cause of frontotemporal dementia [MIM:600274]. SIMILARITY: Belongs to the peptidase A22A family. |
| Stem Cell Type |
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| Molecular Weight | 62 kDa |
| Product Usage Statements | |
|---|---|
| Usage Statement |
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| Storage and Shipping Information | |
|---|---|
| Storage Conditions | Maintain at -20°C in undiluted aliquots for up to 12 months. Avoid repeated freeze-thaw cycles. |
| Packaging Information | |
|---|---|
| Material Size | 100 µL |