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FLASH GENE
Symbol C12orf65 contributors: npt/shn - updated : 08-01-2013
HGNC name chromosome 12 open reading frame 65
HGNC id 26784
Corresponding disease
COFD7 Combined oxidative phosphorylation deficiency 7
SPG55 spastic paraplegia type 55
Location 12q24.31      Physical location : 123.717.843 - 123.742.506
Synonym name
  • probable peptide chain release factor C12orf65, mitochondrial
  • Synonym symbol(s) FLJ38663, My030, COXPD7, SPG55
    DNA
    TYPE functioning gene
    STRUCTURE 24.64 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D12S1349 - D12S1603 - C12orf65 - D12S378 - D12S1612 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1692 18.7 166 - -
    3 - 1901 18.7 166 - -
    3 - 1608 18.7 166 - -
    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
  • 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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS