TBC1 domain family member 7 (TBC1D7)

TBC1 domain family member 7 (TBC1D7) is a protein that serves as the third core subunit of the tuberous sclerosis complex (TSC), binding to TSC1 and stabilizing the TSC1-TSC2 complex, which is a major negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway controlling cell growth, autophagy, and differentiation. Unlike other TBC-domain proteins, TBC1D7 lacks critical Rab-GAP catalytic motifs and thus is not a classical GTPase-activating protein, though weak activity toward Rab17 has been described in vitro. Pathologically, biallelic mutations in TBC1D7 are associated with neurodevelopmental disorders including intellectual disability and megalencephaly, while increased expression has been linked to susceptibility in certain cancers and migraine. TBC1D7 is not a therapeutic target in the classical sense (e.g., receptor, enzyme, transporter) and no approved or experimental drugs are known to directly target it.

Other names

TBC7HSPC239dJ257A7.3FLJ32666Cell migration-inducing protein 23TS complex subunit 3Tre2-Bub2-Cdc16 domain family member 7MGCPHPIG51TBC1D7-LOC100130357