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FLASH GENE
Symbol CHCHD10 contributors: mct - updated : 18-05-2015
HGNC name coiled-coil-helix-coiled-coil-helix domain containing 10
HGNC id 15559
Corresponding disease
SMALO spinal muscular atrophy late onset
Location 22q11.23      Physical location : 24.108.021 - 24.110.141
Synonym name
  • chromosome 22 open reading frame 16
  • protein N27C7-4
  • coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
    • Synonym symbol(s) N27C7-4, C22orf16, MGC70831
    DNA
    TYPE functioning gene
    STRUCTURE 2.12 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 749 14.02 142 - 2010 20888800
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveintestinelarge intestinecolon highly
     mouthtongue    Homo sapiens
     pancreas exocrine   highly
    Urinarykidney   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled coil-helix-coiled coil-helix (CHCH)-domain
    • HOMOLOGY
    interspecies ortholog to murine Ndg2
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • play a potential role in the process of energy generation by oxidative phosphorylation
  • likely involved in the function of complex IV
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SMALO
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS