{"symbol":"NCSTN","synonyms":["ATAG1874"],"name":"nicastrin","description":"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\u0027s disease; however, the nature of the encoded protein\u0027s role in Alzheimer\u0027s 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]","ncbiEntrezGeneId":23385,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/23385","proteins":[{"symbol":"NICA_HUMAN","href":"/api/1.0/protein/NICA_HUMAN"}],"hgncRootFamilies":[]}