NCSTN wt Allele

**Semantic type:** Gene or Genome

**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.

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