Aliases for TBC1D8B Gene
External Ids for TBC1D8B Gene
Previous GeneCards Identifiers for TBC1D8B Gene
This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
GeneCards Summary for TBC1D8B Gene
TBC1D8B (TBC1 Domain Family Member 8B) is a Protein Coding gene. Diseases associated with TBC1D8B include Nephrotic Syndrome, Type 20 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is TBC1D8.
UniProtKB/Swiss-Prot Summary for TBC1D8B Gene
Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.