NOTCH1 Truncation Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** Nonsense, frameshift, or splice-site mutations involving the NOTCH1 gene that result in a premature stop codon and production of shortened forms of neurogenic locus notch homolog protein 1. NOTCH1 truncation mutations that remove the intracellular PEST domain, which normally promotes protein degradation, may stabilize the protein and lead to aberrant activation of NOTCH signaling pathways. However, truncations in the extracellular domains may produce inactive forms of the protein.

**Synonyms:** - Notch 1 Truncation Mutation - Notch Homolog 1 Truncation Mutation - Notch, Drosophila, Homolog of, 1 Truncation Mutation - TAN1 Truncation Mutation - hN1 Truncation Mutation