If any of these participants sound like you or someone you know, please contact us!
On this page, you will find information about genetic changes that were 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.
Feb 13, 2018
Mitochondrial trans-2-enoyl-CoA reductase
The MECR gene codes for a protein involved in mitochondrial fatty acid synthesis (Heimer et. al., 2016).
Genetics Home Reference: MECR
NCBI Gene: 608205
Changes in the MECR gene were identified in two UDN participants with MEPAN syndrome. A foundation, called the MEPAN Foundation, was created to increase awareness and support of this condition.
Interested in learning more about this gene or sharing what you know? Contact us!