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Symbol NDUFAF8 contributors: npt - updated : 15-01-2020
HGNC name NADH:ubiquinone oxidoreductase complex assembly factor 8
HGNC id 33551
Corresponding disease
NDUFAF8D NADH:ubiquinone oxidoreductase complex assembly factor 8 deficiency
Location 17q25.3      Physical location : -
Synonym name
  • hypothetical protein LOC284184
  • chromosome 17 open reading frame 89
  • Synonym symbol(s) C17orf89
    DNA
    TYPE functioning gene
    STRUCTURE 2.00 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 564 - 121 - 2016 27499296
    3 - 825 - 67 - 2016 27499296
    3 - 565 7.6 74 - 2016 27499296
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Reproductivefemale systemovary   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a twin Cx9C motif
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • role of NDUFAF8 in early complex I assembly
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NDUFAF8 is a potential complex I assembly factor based on its strong protein-protein interaction with the well-characterized complex I assembly factor NDUFAF5 (PMID;:
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFAF8D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS