Gene: MECR

Alternate names for this Gene: CGI-63|DYTOABG|ETR1|FASN2B|NRBF1

Gene Summary: The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy.

Gene is located in Chromosome: 1

Location in Chromosome : 1p35.3

Description of this Gene: mitochondrial trans-2-enoyl-CoA reductase

Type of Gene: protein-coding

rs145192716 in MECR gene and DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES PMID 27817865 2016 MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

rs1565716 in MECR gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.