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FLASH GENE
Symbol MLH3 contributors: mct - updated : 15-09-2016
HGNC name mutL homolog 3 (E. coli)
HGNC id 7128
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • predicted ATPase motif in the N terminus
  • a C terminal MLH1 interaction domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast mutator gene (bacterial Mut L)
    Homologene
    FAMILY DNA mismatch repair MUTl/HEXB family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • putatively primarily involved in repair of insertion/deletion loops and associated when mutated, with microsatellite instability
  • involved in meiotic recombination
  • TEX11, testis expressed gene 15 (TEX15), mutL homolog 1 (MLH1), and homolog 3 (MLH3), play critical roles in genome integrity, meiotic recombination, and gametogenesis
  • MutL homolog protein in mammals playing a role in DNA mismatch repair, is associated with spermatogenesis and male infertility
  • CELLULAR PROCESS nucleotide, repair, mismatch repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimer of MLH1 and MLH3
    INTERACTION
    DNA
    RNA MSH4 in meiotic cells
    small molecule
    protein
  • MLH1
  • MLH1-MLH3, a meiotic crossover and DNA mismatch repair factor, is a MSH2-MSH3-stimulated endonuclease
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HNPCC7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in colorectal cancer
    tumoral     --low  
    in low-grade glioma, by methylation of the promoter
    Susceptibility
  • to colorectal cancer (in association with MLH1 mutation)
  • to male infertility
  • Variant & Polymorphism SNP
  • rs 175080 in the MLH3 gene associated to male infertility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS