| UniProt Protein Function: | MT-ND5: 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-ND5 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. Defects in MT-ND5 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Defects in MT-ND5 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Defects in MT-ND5 are a cause of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS). MELAS is a genetically heterogenious disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. Belongs to the complex I subunit 5 family. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass; Oxidoreductase; EC 1.6.5.3; Mitochondrial Chromosomal Location of Human Ortholog: - Disease: Leber Optic Atrophy; Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes |
| UniProt Code: | P03915 |
| NCBI GenInfo Identifier: | 6648059 |
| NCBI Gene ID: | 4540 |
| NCBI Accession: | P03915.2 |
| UniProt Secondary Accession: | P03915,Q34773, Q8WCY3, |
| Molecular Weight: | 67,027 Da |
| NCBI Full Name: | NADH-ubiquinone oxidoreductase chain 5 |
| NCBI Synonym Full Names: | mitochondrially encoded NADH dehydrogenase 5 |
| NCBI Official Symbol: | MT-ND5 |
| NCBI Official Synonym Symbols: | MTND5; ND5 |
| NCBI Protein Information: | NADH dehydrogenase, subunit 5 (complex I) |
| UniProt Protein Name: | NADH-ubiquinone oxidoreductase chain 5 |
| UniProt Synonym Protein Names: | NADH dehydrogenase subunit 5 |
| UniProt Gene Name: | MT-ND5 |
| UniProt Entry Name: | NU5M_HUMAN |
