Disease-gene associations mined from literature

Literature associating TBCK and Koolen de Vries syndrome

TBCK [ENSP00000273980]

TBC domain-containing protein kinase-like protein; Involved in the modulation of mTOR signaling and expression of mTOR complex components. Involved in the regulation of cell proliferation and growth. Involved in the control of actin-cytoskeleton organization.

Synonyms:  TBCK,  D6R950,  D6RC61,  D6RDG2,  D6RDY5 ...

Linkouts:  STRING  Pharos  UniProt