NCSTN
Function
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.
Involvement in disease
Acne inversa, familial, 1
ACNINV1
A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Sequence Similarities
Belongs to the nicastrin family.
Tissue Specificity
Detected in brain (at protein level) (PubMed:10993067). Widely expressed (PubMed:11396676).
Cellular localization
- Membrane
- Single-pass type I membrane protein
- Cytoplasmic vesicle membrane
- Single-pass type I membrane protein
- Melanosome
- Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Alternative names
KIAA0253, UNQ1874/PRO4317, NCSTN, Nicastrin