Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol C12orf65 contributors: npt/shn - updated : 27-06-2019
HGNC name chromosome 12 open reading frame 65
HGNC id 26784
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