Feb 21, 2019
DENN domain containing 5B
The DENND5B gene functions as an activator for RAB39 by promoting the release of GDP and binding of GTP. RAB39 is a RAB GTPase that controls membrane trafficking events (Yoshimura et al., 2010).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!