MECR

On this page, you will find information about genetic changes that were identified in a UDN participant.

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Changes in this gene were identified in two UDN participants with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally) (read full description).

Date of Report

Feb 13, 2018

Full Name

Mitochondrial trans-2-enoyl-CoA reductase

Location

Chromosome 1 (1p35.3)

Function

The MECR gene codes for a protein involved in mitochondrial fatty acid synthesis (Heimer et. al., 2016).

Database Links

GeneCards: MECR

NCBI Gene: 608205

OMIM: 51102

Clinical Significance

Changes in the MECR gene were identified in two UDN participants (OMIM 617282).

The MEPAN Foundation was created to increase awareness and support of this condition. More information can be found on the United Mitochondrial Disease Foundation, NBIA Cure, and NORD websites.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
MECR	Autosomal recessive	chr1:g.29527026dup & chr1:g.29557457C>G	NM_016011.3	c.830+2dup & c.-39G>C	N/A

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