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FLASH GENE
Symbol NDUFA12 contributors: mct - updated : 26-01-2013
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
HGNC id 23987
Corresponding disease
NDUFA12D NDUFA12 deficiency
Location 12q22      Physical location : 95.365.111 - 95.397.511
Synonym name
  • 13 kDa differentiation-associated protein
  • Complex I-B17.2
    • Synonym symbol(s) B17.2, DAP13
    EC.number 1.6.5.3, 1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 32.39 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 504 - 63 - 2011 21617257
    4 - 592 - 145 - 2011 21617257
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestivemouthtongue  moderately
    Reproductivefemale systembreastmammary gland highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscular    
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to NDUFAF2
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text matrix side
    basic FUNCTION
  • playing a role in the transfer of electrons from NADH to the respiratory chain, with ubiquinone as immediate electron acceptor
  • required either at a late step in the assembly of complex I, or in the stability of complex I
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS respiration , electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFA12D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS