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FLASH GENE
Symbol MT-ND6 contributors: shn - updated : 13-11-2012
HGNC name mitochondrially encoded NADH dehydrogenase 6
HGNC id 7462
Corresponding disease
LHON Leber hereditary optic neuropathy
MTENC2 mitochondrial encephalopathy type Leigh syndrome, 2
Location mt      Physical location : -
Synonym name
  • NADH-ubiquinone oxidoreductase,subunit ND6
  • NADH-ubiquinone oxidoreductase chain 6
  • NADH dehydrogenase subunit 6
  • NADH dehydrogenase 6
  • complex I ND6 subunit
    • Synonym symbol(s) NU6M, ND6, MTND6, NAD6
    EC.number 1.6.5.3
    DNA
    TYPE functioning gene
    STRUCTURE 0.53 kb     0 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map chrM:14150-14674
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 525 - 125 mitochondria -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    interspecies ortholog to ND6, Pan troglodytes
    ortholog to Nd6, Mus musculus
    ortholog to Nd6, rattus norvegicus
    Homologene
    FAMILY complex I subunit 6 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text mitochondrial inner membrane
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS respiration
    text mitochondrial respiratory chain enzyme
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LHON , MTENC2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    Leber's hereditary optic neuropathy (LHON) is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Mice with mtDNA ND6 P25L mutation display reduction in retinal function by elecroretinogram, age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria, axonal swelling, and demyelination mostly due to oxidative stress