Activating PTEN Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the PTEN gene that results in constitutive activation of both phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN and its downstream signaling pathways.

**Synonyms:** - Activating MMAC1 Gene Mutation - Activating Mutated in Multiple Advanced Cancers 1 Gene Mutation - Activating PTEN1 Gene Mutation - Activating Phosphatase and Tensin Homolog Gene Mutation - Activating TEP1 Gene Mutation - PTEN Activating Gene Mutation - PTEN Activating Mutation