| ID | Sequence | Length | GC content |
|---|---|---|---|
| AGCAGAGAGGCAAGAUGGCUACGGCAGGGGGUGGCUCUGGGGCUGACCC… | 2961 nt | 0.4981 | |
| AGCAGAGAGGCAAGAUGGCUACGGCAGGGGGUGGCUCUGGGGCUGACCC… | 2408 nt | 0.4992 | |
| AGCAGAGAGGCAAGAUGGCUACGGCAGGGGGUGGCUCUGGGGCUGACCC… | 2609 nt | 0.5006 | |
| AGCAGAGAGGCAAGAUGGCUACGGCAGGGGGUGGCUCUGGGGCUGACCC… | 2822 nt | 0.5028 |
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]
A study in humans demonstrated that the mRNA of the NCSTN in salivary extracellular vesicles showed a statistically significant difference in expression between emergency department patients with acute head trauma and outpatient concussion clinic patients (p=0.0023) [Cheng et al. DOI:10.1002/jcp.28139].