Entity Details
Details
| PrimaryID | 4539 |
| RefseqGene | |
| Symbol | ND4L |
| Name | mitochondrially encoded NADH 4L dehydrogenase |
| Chromosome | |
| Location | |
| TaxID | 9606 |
| Status | live |
| SourceGenome | mitochondrion |
| SourceOrigin | |
| CreationDate | 2003-08-05 |
| ModificationDate | 2021-06-11 |
GO terms
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| GO | Name |
| GO:0005743 | mitochondrial inner membrane |
| GO:0005747 | mitochondrial respiratory chain complex I |
| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
| GO:0008137 | NADH dehydrogenase (ubiquinone) activity |
| GO:0016021 | integral component of membrane |
Diseases
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| Disease ID | Source | Name | Description |
| 535000 | OMIM | Leber hereditary optic neuropathy (LHON) | A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
5 interactions