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FLASH GENE
Symbol MT-ND5 contributors: mct - updated : 30-06-2015
HGNC name mitochondrially encoded NADH dehydrogenase 5
HGNC id 7461
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