RHOBTB3
Description
The RHOBTB3 (Rho related BTB domain containing 3) is a protein-coding gene located on chromosome 5.
RHOBTB3, encoded by the RHOBTB3 gene in humans, is a member of the conserved RhoBTB subfamily of Rho GTPases.
RHOBTB3 acts as a Rab9-regulated ATPase, playing a crucial role in the transportation of vesicles from endosomes to the Golgi apparatus. It facilitates the docking of transport vesicles at the Golgi complex, potentially by releasing M6PRBP1/TIP47 from the vesicles, thereby enabling efficient docking and fusion. RHOBTB3 exhibits specific binding to Rab9, unlike other Rab proteins. Its intrinsic ATPase activity is inherently low due to autoinhibition, which is alleviated by the presence of Rab9.
RHOBTB3 is also known as -.
Associated Diseases
- amelogenesis imperfecta
- dentinogenesis imperfecta
- Fuhrmann syndrome
- Eiken syndrome
- coxopodopatellar syndrome
- dentin dysplasia type I
