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Literature summary for 7.1.1.2 extracted from

  • Smeitink, J.; Sengers, R.; Trijbels, F.; Van den Heuvel, L.
    Human NADH:ubiquinone oxidoreductase (2001), J. Bioenerg. Biomembr., 33, 259-266.
    View publication on PubMed
Search for more literature for 7.1.1.2

Application

Application Comment Organism
medicine a deficient activity of the NADH:ubiquinone oxidoreductase enzyme complex is frequently observed in clinical heterogeneous group of mitochondrial disorders with Leigh (-like) disease as the main contributor. Enzyme complex activity measurement in skeletal muscle is the mainstay of the diagnostic process. Fibroblast studies are a prerequisite whenever prenatal enzyme diagnostic is considered Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
chorionic villus
-
 Homo sapiens
-
muscle skeletal Homo sapiens
-
skin fibroblast cell culture Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
NADH + ubiquinone
-
 Homo sapiens NAD+ + ubiquinol
-
 ?

Subunits

Subunits Comment Organism
More the enzyme complex consists of at least 43 proteins, seven are encoded by the mitochondrial genome, while the remainder are encoded by the nuclear genome Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADH
-
 Homo sapiens