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MTOR - mechanistic target of rapamycin kinase
- Synonym(s) : dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), FK506 binding protein 12-rapamycin associated protein 2, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, FLJ44809, mammalian target of rapamycin, RAFT1, rapamycin and FKBP12 target 1, rapamycin associated protein FRAP2, rapamycin target protein, RAPT1
- Previous symbols and names : FK506 binding protein 12-rapamycin associated protein 1, FRAP, FRAP1, FRAP2, mechanistic target of rapamycin, mechanistic target of rapamycin (serine/threonine kinase)
- Type : gene with protein product
- Chromosomal location : 1p36.22
- OMIM: 601231
- HGNC: 3942
- UniProtKB: P42345
- Genatlas: MTOR
- GenCC: MTOR
- Ensembl: ENSG00000198793
- IUPHAR-DB: 2109
- Reactome: P42345
- LOVD: MTOR
Diseases list
- Disease-causing germline mutation(s) (gain of function) in Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ORPHA:457485 
- Disease-causing somatic mutation(s) in Hemimegalencephaly
ORPHA:99802 - Disease-causing somatic mutation(s) in Isolated focal cortical dysplasia type IIa
ORPHA:269001 - Disease-causing somatic mutation(s) in Isolated focal cortical dysplasia type IIb
ORPHA:269008
: AssessedAdditional information
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