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.

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

Genetics Home Reference: MECR

GeneCards: GC01M029192

NCBI Gene: 608205

OMIM: 51102

Clinical Significance

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.

Gene MECR
Inheritance Pattern Autosomal recessive
Position Chr1: 29527025_29527026; Chr1: 29557457
Transcript NM_016011.3
DNA Change c.830+2dupT; c.-39G>C*
Protein Change None

*This variant is classified as a variant of unknown significance.

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