MECR

Description

The MECR (mitochondrial trans-2-enoyl-CoA reductase) is a protein-coding gene located on chromosome 1.

The MECR gene encodes a mitochondrial enzyme called trans-2-enoyl-CoA reductase. It's located on chromosome 1, specifically at position 1p35.3, and consists of 15 exons. The gene produces a protein with 189 amino acids and a molecular weight of 21.2 kDa. This enzyme plays a crucial role in the mitochondrial fatty acid synthesis (mtFAS) pathway, which is essential for producing octanoic acid, a precursor for lipoic acid synthesis. Lipoic acid is vital for aerobic metabolism. The protein encoded by MECR catalyzes the final step in the mtFAS pathway. Disruptions in the MECR gene can lead to MEPAN Syndrome, a neurometabolic disorder affecting mitochondrial fatty acid synthesis. In mice, a specific knock-out of the Mecr gene in Purkinje cells leads to neurodegeneration.

This enzyme catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters during mitochondrial fatty acid synthesis (fatty acid synthesis type II). While mitochondrial fatty acid chain elongation typically uses acyl carrier protein (ACP) as an acyl group carrier, this enzyme can utilize both ACP and CoA thioesters as substrates in vitro. It exhibits a preference for medium-chain substrates over short- and long-chain ones. It may contribute to the octanoyl chain used in lipoic acid biosynthesis, thereby regulating protein lipoylation and mitochondrial respiratory activity, particularly in Purkinje cells.

MECR is also known as CGI-63, DYTOABG, ETR1, FASN2B, NRBF1, OPA16.

Associated Diseases

• Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
• MEPAN syndrome
• Optic atrophy 16