AlphaFold predicted structure
NCSTN · Q92542
Mean pLDDT
89.4/ 100
Confident
709 residues
Confidence breakdown
- Very high(≥ 90)68%
- Confident(70–90)27%
- Low(50–70)3%
- Very low(< 50)2%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NCSTN
Chr 1q23.2nicastrin
- Aliases:
- KIAA0253, APH2
- MANE:
- ENST00000294785.10
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial hidradenitis suppurativa
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare genetic inflammatory skin disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
acne inversa, familial, 1
0.72neurodegenerative disease
0.52desmoid tumor
0.50Alzheimer disease
0.39neoplasm
0.39hidradenitis suppurativa
0.38Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
0.37Abnormality of the skin
0.34fibromatosis
0.28Parkinson disease
0.26
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Nicastrin
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