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Article

Characterization of the Cytosolic Tuberin-Hamartin Complex

1 Dec 1999

Abstract excerpt

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures, mental retardation, renal dysfunction and dermatological abnormalities. Mutations to either the TSC1 or TSC2 gene are responsible for the disease. The TSC1 gene encodes hamartin, a 130-kDa protein without significant homology to other known mammalian proteins. Analysis of the amino acid...

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PMID: 10585443
DOI: 10.1074/jbc.274.50.35647

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