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Rabbit Anti-Nicastrin/FITC Conjugated antibody
background:
The Presenilin 1 (PS1) and Presenilin 2 (PS2) transmembrane proteins are components of high molecular weight complexes. These complexes mediate proteolytic cleavage within the transmembrane domain of several proteins, including the ∫-Amyloid precursor protein (∫APP) and Notch. Missense mutations in the genes encoding the Presenilin proteins increase the proteolysis of ∫APP and results in the overproduction of the neurotoxic ∫-Amyloid peptide, which results in a condition associated with Familial Alzheimer’s disease (FAD). A novel component of the presenilin complex, nicastrin, is a type I transmembrane glycoprotein that is involved in mediating Notch/GLP-1 signaling. In addition, nicastrin contributes to the processing of ∫APP, which makes nicastrin an attractive potential target for modulating the production of ∫-Amyloid in patients with Alzheimer’s disease. Originally purified from immunoprecipitated PS1 complexes from HEK293 cells, nicastrin contains hydrophilic amino and carboxy-terminal domains, a short, hydrophobic transmembrane domain and potential N-myristoylation and phosphorylation sites.
Function:
Essential 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). It probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex.
Subunit:
Belongs to the nicastrin family.
Subcellular Location:
Membrane. Melanosome. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in NCSTN are the cause of familial acne inversa type 1 (ACNINV1) [MIM:142690]. A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
Similarity:
Belongs to the nicastrin family.
Database links:
Entrez Gene: 23385 Human
Entrez Gene: 59287 Mouse
Omim: 605254 Human
SwissProt: Q92542 Human
SwissProt: P57716 Mouse
Unigene: 517249 Human
Unigene: 218203 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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