3 Ontology Annotations
| GO Term | Gene Name |
|---|---|
| GO:0008137 | IPR003917 |
| GO:0006120 | IPR003917 |
| GO:0055114 | IPR003917 |
| Type: | Family | Name: | NADH:ubiquinone oxidoreductase, chain 2 |
| Description: | NADH:ubiquinone oxidoreductase (complex I) () is a respiratory-chain enzyme that catalyses the transfer of two electrons from NADH to ubiquinone in a reaction that is associated with proton translocation across the membrane (NADH + ubiquinone = NAD+ + ubiquinol) []. Complex I is a major source of reactive oxygen species (ROS) that are predominantly formed by electron transfer from FMNH(2). Complex I is found in bacteria, cyanobacteria (as a NADH-plastoquinone oxidoreductase), archaea [], mitochondria, and in the hydrogenosome, a mitochondria-derived organelle. In general, the bacterial complex consists of 14 different subunits, while the mitochondrial complex contains homologues to these subunits in addition to approximately 31 additional proteins []. This entry represents subunit 2 (ND2 or chain 2) from NADH:ubiquinone oxidoreductase (complex I). Defects in the ND2 gene are one of the causes of Leber's hereditary optic neuropathy, a maternally inherited disease resulting in acute bilateral blindness due to retinal degeneration, predominantly in young men [, ]. Cardiac conduction defects and neurological defects have also been described, resulting in optic nerve degeneration and cardiac dysrhythmia []. The clinical manifestations of this disease are thought to be the product of an overall decrease in mitochondrial energy production, rather than the result of a defect in a specific mitochondrial enzyme []. Further research has shown that a point mutation in ND2 is a potential risk factor for Alzheimer's disease []. | Short Name: | NADH_UbQ_OxRdtase_chain2 |
| GO Term | Gene Name |
|---|---|
| GO:0008137 | IPR003917 |
| GO:0006120 | IPR003917 |
| GO:0055114 | IPR003917 |
