MTOR Gene: Function, Mutations, and Associated Diseases | Biomedical SEO

The MTOR gene encodes the mechanistic target of rapamycin (mTOR), a serine/threonine kinase that serves as a central regulator of cell growth, proliferation, motility, survival, and protein synthesis. It integrates signals from growth factors, nutrients, and cellular energy status to modulate cellular metabolism. mTOR is a key component of two distinct complexes, mTORC1 and mTORC2, which have different substrates and functions. Dysregulation of MTOR is implicated in various cancers, metabolic disorders, and developmental syndromes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• PI3K/AKT/mTOR pathway

• mTOR signaling pathway

• Insulin signaling pathway

• Autophagy regulation

• Cell cycle regulation

The mTOR protein is a large (289 kDa) serine/threonine kinase that forms two distinct complexes: mTORC1 (with Raptor, mLST8, and PRAS40) and mTORC2 (with Rictor, mLST8, and SIN1). mTORC1 is rapamycin-sensitive and regulates protein synthesis, autophagy, and lipid biogenesis in response to growth factors and amino acids. mTORC2 is rapamycin-insensitive and controls cell survival and cytoskeletal organization by phosphorylating AKT and other targets. The protein contains multiple domains including HEAT repeats, FAT domain, FRB domain, kinase domain, and FATC domain. Its activity is tightly regulated by upstream signals such as PI3K/AKT, AMPK, and amino acid sensing via Rag GTPases.