Browse All / Genes / TSC1

TSC1

TSC complex subunit 1
5 disorders 3 untyped 1 causative 1 no genetic record 9q34.13 gene with protein product
HGNC:12362MonarchNCBI Gene 7248ENSG00000165699UniProt Q92574OMIM 605284

Previous symbols: TSC. Aliases: KIAA0243, LAM, hamartin.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Focal Cortical Dysplasia Type II causative germline and somatic
Lymphangioleiomyomatosis untyped
Biallelic Inactivating Mutations
germline and somatic
Perivascular Epithelioid Cell Neoplasm untyped
Biallelic Inactivating Mutations
somatic
Tuberous Sclerosis Complex untyped
Pathogenic Mutations
mechanism: Somatic Second Hit at TSC Locus; TSC1/TSC2 Loss of Function (Germline First Hit)
subtype: TSC1
Infantile Spasms no genetic record
mechanism: mTOR pathway hyperactivation
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.