Entity Details

Primary name ND4L
Entity type gene
Source Source Link

Details

PrimaryID4539
RefseqGene
SymbolND4L
Namemitochondrially encoded NADH 4L dehydrogenase
Chromosome
Location
TaxID9606
Statuslive
SourceGenomemitochondrion
SourceOrigin
CreationDate2003-08-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNU4LM_HUMAN

GO terms

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GOName
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 IDSourceNameDescription
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.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
ND4LABHD16AIntAct14667819 details
ND4LSTAT1BioGRID, IntAct21988832 details
ND4LGLP1RBioGRID26272612 details
ND4LTRIM25BioGRID29117863 details
ND4LDDX58BioGRID32513696 details