Nicastrin ist ein Gen, das durch das Symbol NCSTN kodiert wird. Im Allgemeinen auch bezeichnet als: NCSTN; KIAA0253. Nicastrin hat eine Masse von 78.41kDa, eine Aminosäurelänge von 709, und ist an Acne inversa, familial, 1 beteiligt.
Wir bieten 6 antikörper gegen Nicastrin, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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 (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.
Entrez Zusammenfassung
This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Gewebespezifität
Detected in brain (at protein level) (PubMed:10993067). Widely expressed (PubMed:11396676).
Rolle bei Krankheiten
Acne inversa, familial, 1: 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.
Sequenzähnlichkeiten
Belongs to the nicastrin family.
Posttranslationale Modifikation
N-glycosylated.
Zellort
Membrane. Cytoplasmic vesicle membrane. Melanosome.
Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
