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- NCIT_C162433 IAO_0000115 "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." @default.
- NCIT_C162433 NCIT_NHC0 "C162433" @default.
- NCIT_C162433 NCIT_P100 "605254" @default.
- NCIT_C162433 NCIT_P102 "AF240468" @default.
- NCIT_C162433 NCIT_P106 "Gene or Genome" @default.
- NCIT_C162433 NCIT_P108 "NCSTN wt Allele" @default.
- NCIT_C162433 NCIT_P208 "CL970989" @default.
- NCIT_C162433 NCIT_P321 "23385" @default.
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- NCIT_C162433 NCIT_R40 NCIT_C34070 @default.
- NCIT_C162433 NCIT_R41 NCIT_C14182 @default.
- NCIT_C162433 NCIT_R41 NCIT_C14225 @default.
- NCIT_C162433 NCIT_R41 NCIT_C14234 @default.
- NCIT_C162433 NCIT_R41 NCIT_C14250 @default.
- NCIT_C162433 NCIT_R41 NCIT_C14262 @default.
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- NCIT_C162433 NCIT_R41 NCIT_C25796 @default.
- NCIT_C162433 NCIT_R41 NCIT_C79740 @default.
- NCIT_C162433 normalizedInformationContent "100" @default.
- NCIT_C162433 referenceCount "1" @default.
- NCIT_C162433 hasExactSynonym "APH2" @default.
- NCIT_C162433 hasExactSynonym "ATAG1874" @default.
- NCIT_C162433 hasExactSynonym "Anterior Pharynx Defective 2, C elegans, Homolog of Gene" @default.
- NCIT_C162433 hasExactSynonym "Anterior Pharynx-Defective 2 Gene" @default.
- NCIT_C162433 hasExactSynonym "KIAA0253" @default.
- NCIT_C162433 hasExactSynonym "NCSTN wt Allele" @default.
- NCIT_C162433 hasExactSynonym "Nicastrin wt Allele" @default.
- NCIT_C162433 hasExactSynonym "UNQ1874/PRO4317" @default.
- NCIT_C162433 type Class @default.
- NCIT_C162433 isDefinedBy ncit.owl @default.
- NCIT_C162433 label "NCSTN wt Allele" @default.
- NCIT_C162433 subClassOf NCIT_C162432 @default.
- NCIT_C162433 subClassOf NCIT_C162433 @default.
- NCIT_C162433 subClassOf NCIT_C16612 @default.
- NCIT_C162433 subClassOf NCIT_C20194 @default.
- NCIT_C162433 equivalentClass B40dbf7932e431669927507780602d5bc @default.
- NCIT_C162433 equivalentClass B8a332d94e7c8d22b5ce0e97a635396f2 @default.