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 Hidradenitis Suppurativa. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Notch signaling pathway (KEGG). Gene Ontology (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 (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335). 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.