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FLASH GENE
Symbol NDUFS6 contributors: npt/mct - updated : 25-09-2010
HGNC name NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
HGNC id 7713
Corresponding disease
CMTND2 mitochondrial complex 1 deficiency 2
Location 5p15.33      Physical location : 1.801.495 - 1.816.163
Synonym name
  • iron-sulfur protein 6
  • NADH-ubiquinone oxidoreductase 13 kDa-A subunit
  • Synonym symbol(s) CI-13kD-A, CI13KDA
    EC.number 1.6.5.3, 1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 14.66 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 554 - 124 - PMID: 9878551
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrineadrenal gland   highly
    Reproductivemale systemprostate  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • complex I NDUFS6 subunit family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    text mitochondrial inner membrane, matrix side
    basic FUNCTION
  • first enzyme complex in the electron transport chain of mitochondria
  • transfering electrons from NADH to the respiratory chain
  • play a role in mitochondrial oxidative phosphorylation (Scotto 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMTND2
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    homozygous mutations in mitochondrial complex 1 deficiency (MIM 252010), in 2 unrelated families
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ndufs6gt/gt mice have reduced expression of the Ndufs6 subunit resulting in different degrees of CI deficiency in various tissues, but most pronounced in the heart with cardiomyopathy and a markedly diminished functional capacity and a predisposition to heart failure