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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 6 with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) (read full description).
Aug 06, 2020
diacylglycerol lipase alpha
This gene codes for a diacylglycerol whose role is to synthesize the endocannabinoid 2-arachidonoyl-glycerol. This enzyme plays a role in axonal growth during development and synaptic signaling (Bisogno et al., 2003).
A change in this gene was identified in a UDN participant. Contact the UDN if you or someone you know has a variant in this gene.
Interested in learning more about this gene or sharing what you know? Contact us!