Activating NOTCH3 Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the NOTCH3 gene that results in constitutive activation of both neurogenic locus notch homolog protein 3 and its downstream signaling pathways.

**Synonyms:** - Activating CADASIL Gene Mutation - Activating CASIL Gene Mutation - Activating IMF2 Gene Mutation - Activating NOTCH3 Gene Mutation - Activating Notch (Drosophila) Homolog 3 Gene Mutation - Activating Notch 3 Gene Mutation - Activating Notch Homolog 3 Gene Mutation - NOTCH3 Activating Gene Mutation - NOTCH3 Activating Mutation