Entity Details

Primary name ND5
Entity type gene
Source Source Link

Details

PrimaryID4540
RefseqGene
SymbolND5
Namemitochondrially encoded NADH dehydrogenase 5
Chromosome
Location
TaxID9606
Statuslive
SourceGenomemitochondrion
SourceOrigin
CreationDate2003-08-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNU5M_HUMAN

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0003954 NADH dehydrogenase activity
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:0010243 response to organonitrogen compound
GO:0015990 electron transport coupled proton transport
GO:0016021 integral component of membrane
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0042542 response to hydrogen peroxide
GO:0043005 neuron projection

Diseases

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Disease IDSourceNameDescription
540000 OMIMMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. The disease is caused by variants affecting the gene represented in this entry.
535000 OMIMLeber 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.
256000 OMIMLeigh syndrome (LS)An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. The disease is caused by variants affecting the gene represented in this entry.