Recombinant Human Trans-2-enoyl-CoA reductase, mitochondrial (MECR)

Uniprot Id

Q9BV79

Target Species

Human

Target Name

MECR

Target Full Name

Enoyl-[acyl-carrier-protein] reductase, mitochondrial

Target Function

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. Displays a preference for medium-chain over short- and long-chain substrates. May provide the octanoyl chain used for lipoic acid biosynthesis, regulating protein lipoylation and mitochondrial respiratory activity particularly in Purkinje cells.

Target Involvement

Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)

Target Subcellular Location

[Isoform 1]: Mitochondrion.; [Isoform 2]: Cytoplasm. Nucleus.

Target Protein Families

Zinc-containing alcohol dehydrogenase family, Quinone oxidoreductase subfamily

Target Tissue Specificity

Highly expressed in skeletal and heart muscle. Expressed at lower level in placenta, liver, kidney and pancreas. Weakly or not expressed in lung.

Target Synonyms

AI195831; CGI 63; FASN2B; Homolog of yeast 2 enoyl thioester reductase; HsNrbf-1; HsNrbf1; mecr; MECR_HUMAN; Mitochondrial 2 enoyl thioester reductase; mitochondrial; NRBF 1; NRBF-1; NRBF1; Nuclear receptor binding factor 1; Nuclear receptor-binding factor 1; OTTMUSP00000009996; RP23-13A13.1; Trans 2 enoyl CoA reductase; mitochondrial; Trans-2-enoyl-CoA reductase

Target Background

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.