MT-ND4 mitochondrially encoded NADH dehydrogenase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-ND4provided by HGNC
Official Full Name: mitochondrially encoded NADH dehydrogenase 4provided by HGNC
Primary source: HGNC:HGNC:7459
See related: MIM:516003; AllianceGenome:HGNC:7459
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTND4; ND4
Summary: Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Part of mitochondrial respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (10760..12137)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (10760..12137)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial Diabetes Is Associated with the ND4 G11696A Mutation.
Title: Mitochondrial Diabetes Is Associated with the ND4 G11696A Mutation.
A small protein coded within the mitochondrial canonical gene nd4 regulates mitochondrial bioenergetics.
Title: A small protein coded within the mitochondrial canonical gene nd4 regulates mitochondrial bioenergetics.
Variation in retinal nerve fiber layer thickness at different stages of Leber's hereditary optic neuropathy in patients with the ND4 G11778A mutation.
Title: Variation in retinal nerve fiber layer thickness at different stages of Leber's hereditary optic neuropathy in patients with the ND4 G11778A mutation.
Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India.
Title: Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India.
Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility.
Title: Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility.
Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
Title: Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.
Title: Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.
NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
Title: NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.
Title: Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.
Diagnostic value of circulating cell-free mtDNA in patients with suspected thyroid cancer: ND4/ND1 ratio as a new potential plasma marker.
Title: Diagnostic value of circulating cell-free mtDNA in patients with suspected thyroid cancer: ND4/ND1 ratio as a new potential plasma marker.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber optic atrophy MedGen: C0917796 OMIM: 535000 GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

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Genotypes

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Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC55343P6 (e-PCR)
- UniSTS:273329

PMC55343P7 (e-PCR)
- UniSTS:273330

PMC55343P8 (e-PCR)
- UniSTS:273331

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADH dehydrogenase (ubiquinone) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed
contributes_to NADH dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquinone binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	IBA Inferred from Biological aspect of Ancestor more info
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in electron transport coupled proton transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial electron transport, NADH to ubiquinone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex I	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed