Article
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.
Human molecular genetics - 1 Dec 2001
Hodges A K, Li S, Maynard J, Parry L, Braverman R, Cheadle J P, DeClue J E, Sampson J R
Abstract excerpt
Critical functions of hamartin and tuberin, encoded by the TSC1 and TSC2 genes, are likely to be closely linked. The proteins interact directly with one another and mutations affecting either gene result in the tuberous sclerosis phenotype. However, the regions of hamartin and tuberin that interact have not been well defined, and the relationship between their interaction and the pathogenesis of tuberous...
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