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FLASH GENE
Symbol NDUFB6 contributors: npt/mct - updated : 03-09-2010
HGNC name NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa
HGNC id 7701
Location 9p21.1      Physical location : 32.553.522 - 32.573.182
Synonym name
  • NADH-ubiquinone oxidoreductase B17 subunit
  • complex I, mitochondrial respiratory chain, B17 subunit
  • NADH-ubiquinone oxidoreductase beta subunit, 6
  • complex I-B17
  • Synonym symbol(s) B17, CI, MGC13675, NDUFB17, CI-B17
    EC.number 1.6.5.3, 1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 19.66 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 - 862 - 128 - Benit (2001)
    3 - 817 - 113 - Benit (2001)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • complex I NDUFB6 subunit family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • transfer of electrons from NADH to the respiratory chain
  • having NADH dehydrogenase activity and oxidoreductase activity
  • is required for activity of mitochondrial complex I in human cell lines
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component beta 6, hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by thyroid hormones
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in muscle from diabetic patients (Ling 2007)
    constitutional       loss of function
    in patients presenting a Complex I defect
    Susceptibility to age-dependent insulin resistance
    Variant & Polymorphism other rs629566 G/G genotype exhibited higher muscle NDUFB6 expression, but is associated with reduced expression in elderly subjects, and degree of DNA methylation correlated negatively with muscle NDUFB6 expression, which in turn was associated with insulin sensitivity (Ling 2007)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS