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TSC2 - TSC complex subunit 2
- Synonym(s) : LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin
- Previous symbols and names : TSC4, tuberous sclerosis 2
- Type : gene with protein product
- Chromosomal location : 16p13.3
- OMIM: 191092
- HGNC: 12363
- UniProtKB: P49815
- Genatlas: TSC2
- GenCC: TSC2
- Ensembl: ENSG00000103197
- IUPHAR-DB: -
- Reactome: P49815
- LOVD: TSC2
Diseases list
- Disease-causing germline mutation(s) in Tuberous sclerosis complex
ORPHA:805 
- 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 - Disease-causing somatic mutation(s) in Lymphangioleiomyomatosis
ORPHA:538 - Role in the phenotype of Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
ORPHA:88924 - Candidate gene tested in Adult hepatocellular carcinoma
ORPHA:210159
: AssessedAdditional information
Patient-centred resources for this gene
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