| Primary Identifier | IPR045799 | Type | Domain |
| Short Name | TBC1D23_C |
| description | This entry represents the C-terminal domain of TBC1D23 which contains the residues for specific FAM21 binding and for the cargo of endosome-derived carriers. It adopts a fold similarto the Pleckstrin homology (PH) domain. Mutations in this protein, and particularly in this domain, are linked with Pontocerebellar hypoplasia (PCH) [, , ], suggesting that the TBC1D23 C-terminal domain is required for neuronal growth and brain development.TBC1 domain family member 23 (TBC1D23) is a catalytically inactive member of a family of Rab GTPase-activating proteins (GAPs) which plays a role in endosome-to-Golgi trafficking and is important for normal brain development, especially in axonal and dendritic growth. It functions as a bridging factor between golgin-97/245 and the FAM21 subunit of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex on endosomal vesicles []. Mutations of the TBC1D23 gene cause pontocerebellar hypoplasia and alter cortical development []. |
