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FLASH GENE
Symbol NDUFA8 contributors: mct - updated : 22-08-2011
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa
HGNC id 7692
Location 9q33.2      Physical location : 124.906.339 - 124.922.098
Synonym name NADH:ubiquinone oxidoreductase PGIV subunit
Synonym symbol(s) PGIV, CI-19KD, CI-PGIV, MGC793
EC.number 1.6.99.3
DNA
TYPE functioning gene
STRUCTURE 15.76 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 859 - 172 - 2011 21310150
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrinepancreas   highly
 parathyroid   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text heart
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a motif of eight cysteine residues
  • two twin Cx9C domains
  • a hydrophobic motif at the N terminus, suggesting that the protein is incorporated in the mitochondrial inner membrane
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,organelle,membrane
    text with NDUFB, located at the intermembrane surface of complex I, and stabilize the membrane domain of complex I
    basic FUNCTION may play an important role in mitochondrial function
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component alpha 8, hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
    INTERACTION
    DNA
    RNA
    small molecule
    protein NDUFA8 forms intramolecular disulfide bridges and, together with NDUFB7, is localized in the mitochondrial inter membrane space
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS