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).
Changes in the MECR gene were identified in two UDN participants. They were found to carry the following genetic changes in the MECR gene: c.830+2dupT; c.-39G>C. Research is underway to see if these changes are causing symptoms in these patients.
*This variant is classified as a variant of unknown significance.
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