P03915.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
NCBI Official Full Name
NADH-ubiquinone oxidoreductase chain 5
NCBI Official Synonym Full Names
mitochondrially encoded NADH dehydrogenase 5
NCBI Official Synonym Symbols
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 Synonym Gene Names
UniProt Entry Name
NU5M_HUMAN
UniProt Comments for MT-ND5
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.
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
Research Articles on MT-ND5
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Pathways associated with anti-MT-ND5 antibody
Diseases associated with anti-MT-ND5 antibody
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