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FLASH GENE
Symbol MARS2 contributors: mct - updated : 20-05-2015
HGNC name methionine-tRNA synthetase 2 (mitochondrial)
HGNC id 25133
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 18 amino acid mitochondrial import signal sequence
  • consensus motifs characteristic of a class I aminoacyl-tRNA synthetase but lacks the Zn(2+) binding motif
  • C-terminal dimerization region
    • HOMOLOGY
    interspecies ortholog to drosophila Aats-met
    Homologene
    FAMILY class-1 aminoacyl-tRNA synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • methionine-tRNA ligase activity
  • is a mitochondrial translation factor
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    APT binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPAX3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causative for a new mitochondrial translation deficiency disorder with a primary phenotype including developmental delay, poor growth, sensorineural hearing loss and hypotonia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS