Aliases for MECR Gene
External Ids for MECR Gene
Previous GeneCards Identifiers for MECR Gene
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. [provided by RefSeq, Mar 2017]
GeneCards Summary for MECR Gene
MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase) is a Protein Coding gene. Diseases associated with MECR include Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities and 3-Methylglutaconic Aciduria, Type Iii. Among its related pathways are Fatty acid biosynthesis (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and trans-2-enoyl-CoA reductase (NADPH) activity. An important paralog of this gene is VAT1.
UniProtKB/Swiss-Prot Summary for MECR Gene
Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).