TBC1 domain family member 23 (TBC1D23)

TBC1 domain family member 23 (TBC1D23) is a highly conserved, ubiquitously expressed protein that functions as an adapter essential for membrane trafficking, specifically mediating endosome-to-Golgi transport of certain cargo proteins by bridging endosomal vesicles with the Golgi apparatus[3][1][5]. Structurally, TBC1D23 features a catalytically inactive N-terminal TBC domain (not an active Rab GTPase-activating protein), a rhodanese-like domain (catalytically inactive in the sulfurtransferase/phosphatase sense), and a C-terminal pleckstrin homology (PH) domain[1][3][5]. The TBC and rhodanese domains interact with Golgi-localized proteins golgin-97 and golgin-245, while the PH domain binds components of the WASH complex on endosomes[3][5][7]. TBC1D23 is critical for neuronal development, and its mutations underlie pontocerebellar hypoplasia (PCH), a group of severe neurodevelopmental disorders[3][5]. Its main function is as a scaffold/adaptor in vesicular transport pathways, not as an enzyme or classical receptor, and it does not possess Rab-GAP or rhodanese catalytic activity[1][3][5]. There are currently no drugs known to target TBC1D23[4][5].

Other names

NS4ATP1FLJ11046HCV non-structural protein 4A-transactivated protein 1PCH11