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FLASH GENE
Symbol MECR contributors: mct - updated : 18-01-2017
HGNC name mitochondrial trans-2-enoyl-CoA reductase
HGNC id 19691
Corresponding disease
DYTOABG dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Location 1p35.3      Physical location : 29.519.384 - 29.557.454
Synonym name
  • trans-2-enoyl-CoA reductase, mitochondrial
  • nuclear receptor binding factor 1
    • Synonym symbol(s) CGI-63, NRBF1, FASN2B
    EC.number 1.3.1.38
    DNA
    TYPE functioning gene
    STRUCTURE 38.30 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2539 40 373 - 2014 25031892
    10 - 2666 - 297 uniform distribution in the cytoplasm and nucleus of HeLa cells 2014 25031892
  • cMECR lacking the N-terminal 76 amino acids of MECR
  • cMECR directly bound PPARA in the nucleus
    • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Lymphoid/Immunethymus   predominantly
    Reproductivefemale systemovary  highly
     female systemuteruscervix highly
    Skin/Tegumentskin   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine Nrbf1
    ortholog to rattus Nrbf1
    homolog to C. elegans ETR1
    Homologene
    FAMILY
  • zinc-containing alcohol dehydrogenase family
  • quinone oxidoreductase subfamily
    • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • acting as an alcohol dehydrogenase
  • catalyzing the reduction of trans-2-enoyl-CoA to acyl-CoA with chain length from C6 to C16 in an NADPH-dependent manner with preference to medium chain length substrate
  • catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters, generating saturated acyl-groups
  • may have a role in the mitochondrial synthesis of fatty acids
  • role of MECR in peroxisome-proliferator-activator-receptor (PPAR)-dependent signaling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • fatty acid biosynthesis
  • lipid synthesis
  • involved in mitochondrial fatty acid synthesis (mtFASII), that may be involved in the regulation of bioactive lipid levels pathway
    • a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor, nucleotide,
  • Zn2+
  • NADP
    • protein
  • binding protein of the nuclear hormone receptor peroxisome proliferator-activated receptor alpha (PPARA), but the presence of a cytosolic or nuclear isoform of MECR is necessary for functional interaction between MECR and PPARA
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYTOABG
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mecr transgenic mice developed cardiac abnormalities (pMID: 1944339)