Selected-GenAtlas references SOURCE GeneCards NCBI Gene Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MT-ND5 contributors: mct - updated : 30-06-2015
HGNC name mitochondrially encoded NADH dehydrogenase 5
HGNC id 7461
Corresponding disease
LHON Leber hereditary optic neuropathy
MELAS mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
MERRF myoclonic epilepsy associated with ragged-red fibers
MTENC2 mitochondrial encephalopathy type Leigh syndrome, 2
MTLEMS mesial temporal lobe epilepsies (MTLE) with hippocampal sclerosis
Location mt      Physical location : -
Synonym name
  • NADH dehydrogenase, subunit 5 (complex I)
  • NADH dehydrogenase 5
  • NADH-ubiquinone oxidoreductase chain 5
    • Synonym symbol(s) MTND5, ND5, NAD5, NADH5
    EC.number 1.6.5.3
    DNA
    TYPE functioning gene
    STRUCTURE 0.00 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1812 - 98 - -
    EXPRESSION
    Type ubiquitous
       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
    interspecies ortholog to murine Mt-Nd5
    homolog to C. elegans F47B8.9
    Homologene
    FAMILY complex I subunit 5 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • catalysing reduction of ubiquinone on ubiquinol by NADH in the respiratory chain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic
    signaling
    a component
  • one of the forty one subunits of complex 1, located in the hydrophobic fragment
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LHON , MELAS , MTENC2 , MERRF , MTLEMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    (DNA deletion) in skeletal muscle of MNGIE, (mitochondrial neurogastrointestinal encephalomyopathy)
    constitutional germinal mutation      
    in idiopathic Parkinson disease
    constitutional germinal mutation      
    heteroplasmic T>C transition at position 13271 affects a highly conserved base and segregates with isolated exercise intolerance
    Susceptibility to maternally inherited hypertrophic cardiomyopathy
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS