| Primary Identifier | IPR039755 | Type | Family |
| Short Name | TBC1D23 |
| description | 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 isimportant 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 []. |
