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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 5 with absent speech, intellectual disability, and uncoordinated walking (gait ataxia) (read full description).
Oct 16, 2018
ATPase H+ transporting V1 subunit A
The ATP6V1A gene is involved in the production of an enzyme responsible for controlling the movement of protons (H+) across cellular membranes (Fassio et al., 2018).
The following change in this gene was identified in a UDN participant:
Other individuals with similar symptoms and changes in this gene have been identified (Fassio et al. 2018).
Interested in learning more about this gene or sharing what you know? Contact us!