MECR

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.

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 with MEPAN syndrome. The MEPAN Foundation, was created to increase awareness and support of this condition.

Gene MECR

Inheritance Pattern Autosomal recessive

Position (hg19) chr1:g.29527026dup & chr1:g.29557457C>G

Transcript NM_016011.3

DNA Change c.830+2dup & c.-39G>C

Protein Change N/A

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