NCSTN wt Allele

Preferred Label : NCSTN wt Allele;

NCIt synonyms : Anterior Pharynx-Defective 2 Gene; APH2; ATAG1874; Nicastrin wt Allele; KIAA0253; UNQ1874/PRO4317; Anterior Pharynx Defective 2, C elegans, Homolog of Gene;

NCIt definition : Human NCSTN wild-type allele is located in the vicinity of 1q23.2 and is approximately 16 kb in length. This allele, which encodes nicastrin protein, plays a role in intramembrane cleavage of Notch and APP family proteins. Mutation of the gene is associated with familial acne inversa type 1. Mutagenesis of the gene can caused increased levels of amyloid-beta secretion and deletions in the gene may inhibit amyloid-beta production.;

NCI Metathesaurus CUI : CL970989;

GenBank Accession Number : AF240468;

Details

Origin ID

C162433;

UMLS CUI

C5202841;

Automatic exact mappings (from CISMeF team)
- Nicastrin [OMIM gene]
- Zinc finger dhhc domain-containing protein 16 [OMIM gene]
- nicastrin [ORDO Gene]
OMIM relation
- Nicastrin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q23.2 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Syndecan-3-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Regulated Intramembrane Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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