Ontology highlight
ABSTRACT:
SUBMITTER: Nellist M
PROVIDER: S-EPMC2986174 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20081001 3
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34 or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR). Here we investigate the effects of putativ ...[more]