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FLASH GENE
Symbol ETHE1 contributors: mct/npt/pgu - updated : 20-04-2013
HGNC name ethylmalonic encephalopathy 1
HGNC id 23287
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal sequence of 24 amino acids whose residues with similarity to those of mitochondrial leader peptides
  • a beta-lactamase metal-binding domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine Ethe1
    ortholog to rattus Ethe1_predicted
    intraspecies homolog to HAGH
    Homologene
    FAMILY
  • metallo-beta-lactamase superfamily
  • glyoxalase II family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus
    text actively translocated across the inner mitochondrial membrane
    basic FUNCTION
  • playing an important role in mitochondrial homeostasis and energy metabolism
  • mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ETHE1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS