EC Number | Application | Comment | Organism |
---|---|---|---|
7.1.1.2 | 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 |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
7.1.1.2 | Homo sapiens | - |
- |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
7.1.1.2 | chorionic villus | - |
Homo sapiens | - |
7.1.1.2 | muscle | skeletal | Homo sapiens | - |
7.1.1.2 | skin fibroblast | cell culture | Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
7.1.1.2 | NADH + ubiquinone | - |
Homo sapiens | NAD+ + ubiquinol | - |
? |
EC Number | Subunits | Comment | Organism |
---|---|---|---|
7.1.1.2 | 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 |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
7.1.1.2 | NADH | - |
Homo sapiens |