Description
Product Characteristics: 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.
Target Information: TBC1D7 belongs to a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6\, MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (Nakashima et al., 2007 [PubMed 17658474]).[supplied by OMIM, Jul 2010]