TBC1 domain family member 20 (TBC1D20)

TBC1 domain family member 20 is a protein encoded by the TBC1D20 gene and functions as a GTPase-activating protein (GAP) that regulates Rab GTPases, notably Rab1, Rab2, and Rab18[1][3][6][7]. By stimulating GTP hydrolysis, it inactivates these Rab proteins, which are crucial for vesicle trafficking, endoplasmic reticulum morphology, autophagy, and intracellular protein/lipid handling[1][3][5][7]. Mutations in the TBC1D20 gene disrupt normal cell trafficking and are associated with disorders such as Warburg micro syndrome, characterized by neurological and ocular defects[1][4][5]. There are currently no known therapeutic drugs directly targeting TBC1D20, but its role in intracellular transport processes and disease may make it of future pharmacological interest[1][3][4][5].

Other names

C20orf140WARBM4dJ852M4.2[1][4]

GTPase-activating protein activity (inactivation of Rab1 and Rab2 GTPases, inactivation of Rab18 for vesicle trafficking and ER function)[1][3][4][6][7]