Nicastrin
| Nicastrin | ||
|---|---|---|
|
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| Gamma secretase complex with subunits. Nicastrin in red. | ||
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Existing structural data : 4UIS , 4UPC , 5A63 , 5FN2 , 5FN3 , 5FN4 , 5FN5 |
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| Properties of human protein | ||
| Mass / length primary structure | 78.4 kilodaltons / 709 amino acids (isoform 1)
76.7 kilodaltons / 689 amino acids (isoform 2) |
|
| Isoforms | 2 | |
| Identifier | ||
| Gene name | NCSTN | |
| External IDs | ||
| Orthologue | ||
| human | House mouse | |
| Entrez | 23385 | 59287 |
| Ensemble | ENSG00000162736 | ENSMUSG00000003458 |
| UniProt | Q92542 | P57716 |
| Refseq (mRNA) | NM_001290184 | NM_021607 |
| Refseq (protein) | NP_001277113 | NP_067620 |
| Gene locus | Chr 1: 160.34 - 160.36 Mb | Chr 1: 172.07 - 172.08 Mb |
| PubMed search | 23385 |
59287
|
Nicastrin is a transmembrane glycoprotein which, as one of four subunits, is an essential component of the gamma secretase complex. The protein may have a stabilizing effect in the gamma secretase complex and cleave integral membrane proteins such as the receptors of the Notch signaling pathway and the amyloid precursor protein . From the latter, beta-amyloid is formed - the main component in the neuronal plaques found in the brains of Alzheimer's patients. However, the exact role of nicastrin in the development of Alzheimer's disease is still unknown.
Mutations in the coding NCSTN - gene can be familial acne inversa lead.
Individual evidence
- ↑ a b GeneID 23385