External Ids for NCSTN Gene
Previous GeneCards Identifiers for NCSTN Gene
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. [provided by RefSeq, Feb 2014]
GeneCards Summary for NCSTN Gene
NCSTN (Nicastrin) is a Protein Coding gene. Diseases associated with NCSTN include Acne Inversa, Familial, 1 and Acne. Among its related pathways are Presenilin action in Notch and Wnt signaling and Syndecan-3-mediated signaling events. GO annotations related to this gene include peptidase activity and endopeptidase activity.
UniProtKB/Swiss-Prot for NCSTN Gene
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.