Selected-GenAtlas references SOURCE GeneCards NCBI Gene Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MT-ND4 contributors: np - updated : 24-10-2007
HGNC name mitochondrially encoded NADH dehydrogenase 4
HGNC id 7459
Corresponding disease
AINHL aminoglycoside-induced and nonsyndromic hearing loss
LHON Leber hereditary optic neuropathy
MELAS mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
Location mt      Physical location : -
Synonym name
  • NADH dehydrogenase 4
  • NADH-ubiquinone oxidoreductase chain 4
    • Synonym symbol(s) MTND4, ND4, NAD4, NADH4
    EC.number 1.6.5.3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping, gene in gene
    STRUCTURE 1.00 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    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