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FLASH GENE
Symbol MT-ND4 contributors: np - updated : 24-10-2007
HGNC name mitochondrially encoded NADH dehydrogenase 4
HGNC id 7459
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 1668 51 459 - -
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
mono polymer heteromer , complex
HOMOLOGY
Homologene
FAMILY complex I subunit 4 family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
basic FUNCTION
  • CFTR-dependent gene catalysing reduction of ubiquinone on ubiquinol by NADH in the respiratory chain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
  • one of the forty one subunits of complex 1, probably in the hydrophobic protein fragment, key component for the activity of the mitochondrial Complex I (mtCx-I)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by CFTR chloride transport activity indirectly
    ASSOCIATED DISORDERS
    corresponding disease(s) LHON , MELAS , AINHL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    Leber hereditary optic neuropathy
    constitutional somatic mutation      
    mitochondrial encephalomyopathy
    constitutional     --low  
    in cystic fibrosis cultured cells and cystic fibrosis lung tissue
    Susceptibility
  • to schizophrenia
  • to myocardial infarction
  • Variant & Polymorphism other haplotype N9B confering resistance against myocardial infarction
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS