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FLASH GENE
Symbol MTRR contributors: mct - updated : 15-05-2014
HGNC name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
HGNC id 7473
DNA
TYPE functioning gene
STRUCTURE 32.02 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map pter - D5S785 - D5S1434 - D5S405 - D5S1492 - D5S675 - D5S2088 - D5S1906 - [D5S406 - D5S1970 - D5S727 - D5S1921 - D5S760 - D5S731 - D5S13 - D5S417 - D5S15 - D5S464 - D5S1892 - D5S635 - D5S2373 - D5S1455 - SRD5A1 - D5S2465 ] - D5S1980 - D5S1953 - D5S676 - D5S2492 -cen
Authors peterson (99)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3317 - 698 - 1999 10564814
15 - 3291 - 725 - 1999 10564814
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid   highly
Nervousbrain   highly
Reproductivefemale systemuteruscervix highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • FMN, FAD, NADPH binding sites
  • a FAD-binding domain
  • a flavodoxin-like domain
    • HOMOLOGY
    interspecies homolog to C.elegans methionine synthase reductase
    intraspecies homolog to cytochrome p450 reductase
    Homologene
    FAMILY FNR family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    basic FUNCTION
  • 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • activating cobalamin-dependent methionine synthase
  • regenerating a functional methionine synthase via reductive methylation
  • required for electron transfer from NADP to cytochrome p450 in microsomes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    sulfur
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    FAD and FMN
    protein serves as a special chaperone for MTR
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTRRD
    Susceptibility
  • risk factor for neural tube defect, NTD, (combined with low cobalamin)
  • to coronary artery disease (CAD)
  • to migraine with aura
    • Variant & Polymorphism other
  • 66A>G exert a protective effect on neural tube defect
  • MTRR variants may protect against migraine with aura in an older population
  • MTRR A66G polymorphism, but not MTR A2756G, is significantly associated with maternal risk for NTDs in Caucasians
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS