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FLASH GENE
Symbol NDUFB8 contributors: mct - updated : 11-04-2018
HGNC name NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
HGNC id 7703
Corresponding disease
NDUFB8D NDUFB8 deficiency
Location 10q24.31      Physical location : 102.283.496 - 102.289.636
Synonym name
  • NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)
  • NADH:ubiquinone oxidoreductase ASHI subunit
    • Synonym symbol(s) ASHI, CI-ASHI
    EC.number 1.6.5.3/1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 6.19 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 667 - 155 - 2016 27626371
    6 - 758 - 186 - 2016 27626371
    5 - 968 - 172 - 2016 27626371
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Lymphoid/Immunetonsils   highly
    Nervousnervecranial nerve  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY complex I NDUFB8 subunit family
    CATEGORY enzyme , signaling cytokine
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • NADH ubiquinone oxidoreductase (Q reductase)
  • is an essential component for the stability and activity of complex I
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component beta 8, hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • involved in the transfer of electrons from NADH to the respiratory chain
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFB8D
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS