TBC1 domain family member 7 (TBC1D7, TBC7) belongs to a family of TBC (Tre-2/Bub2/Cdc16) containing proteins that function as GTPase-activating proteins (GAPs) . TBC1D7 was initially identified as a novel binding protein within the TSC1-TSC2 complex, where it was thought to associate with TSC1 . Additional research indicates that TBC1D7 is a third subunit of the TSC1-TSC2 complex that possesses Rheb-GAP activity and signals upstream of mTORC1. Knockdown of TBC1D7 limits the association between TSC1 and TSC2, resulting in reduced Rheb-GAP activity and increased mTORC1 signaling . Mutations in the corresponding TBC1D7 gene result in increased mTORC1 signaling, delayed autophagy, and are associated with intellectual disability (ID) and macrocrania.
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