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FLASH GENE
Symbol C12orf65 contributors: npt/shn - updated : 27-06-2019
HGNC name chromosome 12 open reading frame 65
HGNC id 26784
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx    
Endocrineparathyroid    
Lymphoid/Immunethymus    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to LOC100910427, Rattus norvegicus
ortholog to 2810006K23Rik, Mus musculus
ortholog to C12H12orf65, Pan troglodytes
Homologene
FAMILY
  • prokaryotic/mitochondrial release factor family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • may be a soluble matrix protein that does not associate with the mitochondrial ribosome, so it could perhaps play a role in processing peptidyl-tRNAs that have been prematurely released during polypeptide elongation
  • might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation
  • participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis
  • involved in mitochondrial translation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COFD7 , SPG55 , BEHRS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS