Activating MTOR Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the MTOR gene that results in constitutive activation of serine/threonine-protein kinase mTOR and its downstream signaling pathways.

**Synonyms:** - Activating FK506 Binding Protein 12-Rapamycin Associated Protein 1 Gene Mutation - Activating FRAP Gene Mutation - Activating FRAP1 Gene Mutation - Activating Mammalian Target of Rapamycin Gene Mutation - Activating Mechanistic Target of Rapamycin Gene Mutation - Activating Rapamycin and FKBP12 Target 1 Gene Mutation - MTOR Activating Mutation