MECR

Trans-2-enoyl-CoA reductase, mitochondrial is an enzyme that in humans is encoded by the MECR gene.^[5][6][7]

MECR
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1ZSY, 2VCY
Identifiers
Aliases	MECR, CGI-63, FASN2B, NRBF1, mitochondrial trans-2-enoyl-CoA reductase, ETR1, DYTOABG
External IDs	OMIM: 608205; MGI: 1349441; HomoloGene: 5362; GeneCards: MECR; OMA:MECR - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p35.3 Start 29,192,657 bp[1] End 29,230,942 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.3 Start 131,570,781 bp[2] End 131,595,097 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart muscle of thigh gastrocnemius muscle prefrontal cortex anterior cingulate cortex left ventricle right frontal lobe right auricle of heart C1 segment right adrenal gland Top expressed in brown adipose tissue neural layer of retina right kidney lens proximal tubule lip lumbar spinal ganglion primary oocyte epithelium of stomach left colon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity trans-2-enoyl-CoA reductase (NADPH) activity Cellular component cytoplasm mitochondrion nucleus mitochondrial matrix Biological process fatty acid biosynthetic process lipid metabolism fatty acid metabolic process fatty acid beta-oxidation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51102 26922 Ensembl ENSG00000116353 ENSMUSG00000028910 UniProt Q9BV79 Q9DCS3 RefSeq (mRNA) NM_001024732 NM_016011 NM_001349711 NM_001349712 NM_001349713 NM_001349714 NM_001349715 NM_001349716 NM_001349717 NM_025297 RefSeq (protein) NP_001019903 NP_057095 NP_001336640 NP_001336641 NP_001336642 NP_001336643 NP_001336644 NP_001336645 NP_001336646 NP_079573 Location (UCSC) Chr 1: 29.19 – 29.23 Mb Chr 4: 131.57 – 131.6 Mb PubMed search [3] [4]
Wikidata
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Structure

The MECR gene is located on the 1st chromosome, with its specific location being 1p35.3.^[7] The gene contains 15 exons.^[7] MECR encodes a 21.2 kDa protein that is composed of 189 amino acids; 10 peptides have been observed through mass spectrometry data.^[8][9]

Function

The mtFAS pathway with MECR catalyzing the final reduction step.

The protein encoded by MECR is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis (mtFAS).^[10] MECR reduces trans-2-enoyl-ACP to acyl-ACP using NADPH as a reducing agent. The resulting saturated acyl-ACP can then re-enter the mtFAS cycle for further chain elongation.^[11] The reaction can be summarized by the following equation:

trans-2-enoyl-ACP + NADPH + H⁺ → Acyl-ACP + NADP⁺

The mtFAS pathway is essential for producing octanoyl-ACP that is used to synthesize lipoic acid, which is essential for aerobic metabolism.

A Purkinje cell specific knock out of the Mecr gene in mice leads to neurodegeneration.^[12]

Clinical significance

Genetic mutations to MECR have been suggested to cause MEPAN Syndrome, a neurometabolic disorder in humans that involves disruptions in the pathway involved in mitochondrial fatty acid synthesis (mtFAS). MEPAN patients were found to harbor recessive mutations in MECR, and typically present with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI.^[13]

See also

• ACSF3
• Combined malonic and methylmalonic aciduria (CMAMMA)