Aliases for TBC1D17 Gene
External Ids for TBC1D17 Gene
Previous GeneCards Identifiers for TBC1D17 Gene
GeneCards Summary for TBC1D17 Gene
TBC1D17 (TBC1 Domain Family Member 17) is a Protein Coding gene. Diseases associated with TBC1D17 include Glaucoma, Normal Tension and Glaucoma, Primary Open Angle. Among its related pathways are Vesicle-mediated transport and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D15.
UniProtKB/Swiss-Prot Summary for TBC1D17 Gene
Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known.