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Symbol NDUFA6 contributors: mct - updated : 25-10-2018
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
HGNC id 7690
Corresponding disease
NDUFA6D NDUFA6 deficiency
Location 22q13.2      Physical location : 42.481.530 - 42.486.888
Synonym name
  • NADH-ubiquinone oxidoreductase B14 subunit
  • LYR motif-containing protein 6
    • Synonym symbol(s) B14, CI-B14, LYRM6, NADHB14, MC1DN33
    EC.number 1.6.5.3
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 5.43 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1273 - 154 - 2016 27626371
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineparathyroid   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a LYR-motif
    • HOMOLOGY
    Homologene
    FAMILY
  • complex I LYR family, LYRM family of proteins
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • NADH ubiquinone oxidoreductase (Q reductase), involved in the transfer of electrons from NADH to the respiratory chain
  • is one of 27 accessory subunits that have been shown to be essential for complex I assembly and activity
  • LYR-motif-containing complex I subunit that forms part of the Q-module
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component alpha 6, hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TEAD1 may mediate muscle development through its target genes, MRPL21, NDUFA6 and CCNE1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFA6D
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Ndufa6 gene therapy provided long-term suppression of neurodegeneration in the in experimental autoimmune encephalomyelitis (EAE) animal model suggesting that it may also ameliorate the mitochondrial dysfunction associated with permanent disability in optic neuritis and MS patients