Tuberous Sclerosis Protein 2 (TSC2)
LAM; TSC4; Tuberin
Tuberous Sclerosis Protein 2associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms of the protein.
One gene, designated TSC2, was interrupted by all 5 PFGE deletions, and closer examination revealed several intragenic mutations, including 1 de novo deletion. In this case, Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene. The 5.5-kb TSC2 transcript was found to be widely expressed, and its protein product, designated tuberin, to have a region of homology to the GTPase-activating protein GAP3.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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Organism species: Rattus norvegicus (Rat)
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- Customized Service n/a ELISA Kit for Tuberous Sclerosis Protein 2 (TSC2) ELISA Kit Customized Service Offer