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FLASH GENE
Symbol NDUFAF6 contributors: mct/npt - updated : 02-05-2013
HGNC name NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
HGNC id 28625
Corresponding disease
CMTND7 mitochondrial complex 1 deficiency
Location 8q22.1      Physical location : -
Synonym name
  • putative phytoene synthase
  • hypothetical protein LOC137682
  • UPF0551 protein C8orf38, mitochondrial
  • chromosome 8 open reading frame 38
  • Synonym symbol(s) MGC40214, C8orf38
    DNA
    TYPE functioning gene
    STRUCTURE 33.72 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1808 - 333 - 2004 15342556
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
     stomach   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • may be playing an important role for the function of complex I (Pagliarini 2008)
  • required for ND1 synthesis/stabilization
  • is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMTND7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS