Description
Product Characteristics:
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mental retardation and the widespread development of distinctive tumors termed hamartomas. Two different genetic loci have been linked to TSC, one of these loci, the tuberous sclerosis-2 gene (TSC2), encodes a protein called tuberin and the other loci, tuberous sclerosis-1 gene (TSC1), encodes a protein called hamartin. Tuberin and hamartin interact with each other forming a cystoplasmic complex. Hamartin interacts with the ezrin-radixin-moesin (ERM) family of actin-binding proteins and inhibition of hamartin activity results in loss of cell adhesion. Hamartin is present in most adult tissues with strong expression in brain, heart, and kidney.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: Hamartin, kiaa0243, LAM, TSC, TSC1, Tsc1 gene, TSC1_HUMAN, Tuberous sclerosis 1, Tuberous sclerosis 1 protein.
Target Information: This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]