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NCSTN / Nicastrin
nicastrin
NCSTN / Nicastrin is 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.
| Gene Name: | nicastrin |
| Family/Subfamily: | Protease |
| Synonyms: | NCSTN, Anterior pharynx-defective 2, ATAG1874, KIAA0253, Nicastrin, APH2, RP11-517F10.1 |
| Target Sequences: | NM_015331 NP_056146.1 Q92542 |
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