DISEASES

Disease-gene associations mined from literature

Literature associating TBC1D7 and scalp-ear-nipple syndrome

TBC1D7 [ENSP00000475727]

Cell migration-inducing protein 23; Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.

Synonyms:  TBC1D7,  TBC1D7p,  hTBC1D7,  A0A024QZX0,  A0A024R011 ...

Linkouts:  STRING  Pharos  UniProt