If any of these participants sound like you or someone you know, please contact us!Contact Us
On this page, you will find information about genetic changes that were identified in a UDN participant.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Changes in this gene were identified in a male, age 40 with mucopolysaccharidosis type IIIC (Sanfilippo C) (read full description).
Nov 27, 2017
The HGSNAT gene provides instructions to produce an enzyme (N-acetyltransferase) that is located in the lysosome, the part of the cell that helps to break down different types of molecules (Genetics Home Reference).
The following changes in the HGSNAT gene were identified in a UDN participant:
Interested in learning more about this gene or sharing what you know? Contact us!