| Dataset | GeneRIF Biological Term Annotations |
| Category | structural or functional annotations |
| Type | biological term |
| Description | nicastrin|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] (NCBI Entrez Gene Database, 23385) |
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5 genes co-occuring with the biological term ncstn in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
