| UniProt Protein Function: | MT-ND4L: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Defects in MT-ND4L are a cause of Leber hereditary optic neuropathy (LHON). LHON is 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. Belongs to the complex I subunit 4L family. |
| UniProt Protein Details: | Protein type:Energy Metabolism - oxidative phosphorylation; Oxidoreductase; Membrane protein, multi-pass; EC 1.6.5.3; Membrane protein, integral; Mitochondrial Chromosomal Location of Human Ortholog: - Disease: Leber Optic Atrophy |
| UniProt Code: | P03901 |
| NCBI GenInfo Identifier: | 128888 |
| NCBI Gene ID: | 4539 |
| NCBI Accession: | P03901.1 |
| Molecular Weight: | 10,741 Da |
| NCBI Full Name: | NADH-ubiquinone oxidoreductase chain 4L |
| NCBI Synonym Full Names: | mitochondrially encoded NADH 4L dehydrogenase |
| NCBI Official Symbol: | MT-ND4L |
| NCBI Official Synonym Symbols: | MTND4L; ND4L |
| NCBI Protein Information: | NADH dehydrogenase, subunit 4L (complex I) |
| UniProt Protein Name: | NADH-ubiquinone oxidoreductase chain 4L |
| UniProt Synonym Protein Names: | NADH dehydrogenase subunit 4L |
| Protein Family: | NADH-ubiquinone oxidoreductase |
| UniProt Gene Name: | MT-ND4L |
| UniProt Entry Name: | NU4LM_HUMAN |
