Synonym(s)
FK506 Binding Protein 12-Rapamycin Associated Protein; FK506-Binding Protein 12-Rapamycin Complex-Associated Protein; FKBP12-Rapamycin Complex-Associated Protein; FKBP rapamycin associated protein; FRAP; FRAP1; FRAP2; Mammalian Target Of Rapamycin; Mechanistic Target Of Rapamycin; Mechanistic Target Of Rapamycin Kinase; Mechanistic Target Of Rapamycin (Serine/Threonine Kinase); Rapamycin And FKBP12 Target; Rapamycin associated protein FRAP2; Rapamycin Target Protein; Serine/Threonine Protein Kinase MTOR
DefinitionThis section has been translated automatically.
The mTOR gene is located on chromosome 1p36.22 and encodes the mTOR protein, a protein belonging to a family of phosphatidylinositin kinase-related kinases. The mTOR inhibition has been studied for almost a decade. Everolimus, temsirolimus and zotarolimus are 3 of the most commonly used mTOR inhibitors in clinical treatment today.
Diseases associated with MTOR mutations include the rare Smith-Kingsmore syndrome (Gordo G et al. 2018) and focal cortical dysplasia (Nakashima M et al. 2015). Smith-Kingsmore syndrome is a rare disease with macrocephaly, developmental delay and dysmorphic features of the face, which is inherited as an autosomal dominant disorder.
LiteratureThis section has been translated automatically.
- Gordo G et al (2018) mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet 93:762-775.
- Nakashima M et al (2015) Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.Ann Neurol 78:375-86.
Prof. Dr. med. Peter Altmeyer