DISEASES

Disease-gene associations mined from literature

Literature associating TBC1D1 and CAKUT

TBC1D1 [ENSP00000261439]

TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1; May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity).

Synonyms:  TBC1D1,  TBC1D1p,  hTBC1D1,  A0JNU9,  B5MCJ2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM