This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing resu... See more...

Aliases for NDUFS4 Gene

Aliases for NDUFS4 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit S4 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 4, Mitochondrial 3 4
  • NADH-Ubiquinone Oxidoreductase 18 KDa Subunit 3 4
  • Complex I 18kDa Subunit 2 3
  • Complex I-AQDQ 3 4
  • CI-18 KDa 3 4
  • CI-AQDQ 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (18kD) (NADH-Coenzyme Q Reductase) 2
  • Mitochondrial Respiratory Chain Complex I (18-KD Subunit) 3
  • Complex I-18 KDa 4
  • MC1DN1 3
  • CI-18 3
  • AQDQ 3

External Ids for NDUFS4 Gene

Previous GeneCards Identifiers for NDUFS4 Gene

  • GC05P053020
  • GC05P054286
  • GC05P052826
  • GC05P052872
  • GC05P052892
  • GC05P049829

Summaries for NDUFS4 Gene

Entrez Gene Summary for NDUFS4 Gene

  • This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for NDUFS4 Gene

NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4) is a Protein Coding gene. Diseases associated with NDUFS4 include Mitochondrial Complex I Deficiency, Nuclear Type 1 and Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and oxidoreductase activity, acting on NAD(P)H. An important paralog of this gene is WDR93.

UniProtKB/Swiss-Prot Summary for NDUFS4 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

Gene Wiki entry for NDUFS4 Gene

Additional gene information for NDUFS4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFS4 Gene

Genomics for NDUFS4 Gene

GeneHancer (GH) Regulatory Elements for NDUFS4 Gene

Promoters and enhancers for NDUFS4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J053560 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 505.8 +0.5 478 2.6 EP300 ZNF217 TCF12 MYC POLR2G NCOR1 GTF2E2 PHF8 TEAD4 ZFX NDUFS4 FST piR-32214-549
GH05J053590 Enhancer 0.5 Ensembl 17.5 +32.7 32678 5 ZNF316 MAFF MAFK NR2F1 NR2F6 CEBPB ZNF121 SCRT2 EMSY CEBPA NDUFS4 FST piR-31292-170 piR-48222-278
GH05J053477 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.6 -79.4 -79408 6.5 CTCF MYC POLR2G NCOR1 ZNF639 ZBTB5 POLR2A KDM6A ZBTB10 TCF7 FST NDUFS4 piR-54582-005
GH05J053545 Enhancer 1 Ensembl ENCODE 7 -15.5 -15522 5 EP300 USF1 MYC RUNX1 CTBP1 NCOR1 ZNF316 CEBPG MAX NANOG FST NDUFS4 piR-56133-180 lnc-FST-3
GH05J053500 Enhancer 0.5 Ensembl 10.5 -59.5 -59522 0.6 FOXA2 FOXP1 FOXA1 RARA SOX5 CEBPG CEBPB SOX13 CEBPA FST NDUFS4 piR-54582-005 lnc-ARL15-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFS4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFS4

Top Transcription factor binding sites by QIAGEN in the NDUFS4 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • GATA-2
  • MyoD
  • Nkx6-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • TBP
  • TFIID

Genomic Locations for NDUFS4 Gene

Genomic Locations for NDUFS4 Gene
chr5:53,560,623-53,683,341
(GRCh38/hg38)
Size:
122,719 bases
Orientation:
Plus strand
chr5:52,856,463-52,979,171
(GRCh37/hg19)
Size:
122,709 bases
Orientation:
Plus strand

Genomic View for NDUFS4 Gene

Genes around NDUFS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS4 Gene

Proteins for NDUFS4 Gene

  • Protein details for NDUFS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43181-NDUS4_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
    Protein Accession:
    O43181
    Secondary Accessions:
    • Q9BS69

    Protein attributes for NDUFS4 Gene

    Size:
    175 amino acids
    Molecular mass:
    20108 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.

    Three dimensional structures from OCA and Proteopedia for NDUFS4 Gene

neXtProt entry for NDUFS4 Gene

Post-translational modifications for NDUFS4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFS4 Gene

No data available for DME Specific Peptides for NDUFS4 Gene

Domains & Families for NDUFS4 Gene

Gene Families for NDUFS4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NDUFS4 Gene

Blocks:
  • ETC complex I subunit conserved region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFS4 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase 18 kDa subunit (NDUS4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43181

UniProtKB/Swiss-Prot:

NDUS4_HUMAN :
  • Belongs to the complex I NDUFS4 subunit family.
Family:
  • Belongs to the complex I NDUFS4 subunit family.
genes like me logo Genes that share domains with NDUFS4: view

Function for NDUFS4 Gene

Molecular function for NDUFS4 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
GENATLAS Biochemistry:
NADH ubiquitine dehydrogenase (Q reductase),18kDa,component of complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 4,extrinsic domain,mitochondrial

Phenotypes From GWAS Catalog for NDUFS4 Gene

Gene Ontology (GO) - Molecular Function for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 contributes_to NADH dehydrogenase (ubiquinone) activity IBA,IMP 15038602
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
genes like me logo Genes that share ontologies with NDUFS4: view
genes like me logo Genes that share phenotypes with NDUFS4: view

Human Phenotype Ontology for NDUFS4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS4 Gene

MGI Knock Outs for NDUFS4:

Animal Model Products

CRISPR Products

miRNA for NDUFS4 Gene

miRTarBase miRNAs that target NDUFS4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFS4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NDUFS4 Gene

Localization for NDUFS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS4 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFS4 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IMP 11112787
GO:0016020 membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFS4: view

Pathways & Interactions for NDUFS4 Gene

genes like me logo Genes that share pathways with NDUFS4: view

Gene Ontology (GO) - Biological Process for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation IMP 11165261
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0007420 brain development IMP 14765537
GO:0019933 cAMP-mediated signaling IMP 11165261
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with NDUFS4: view

No data available for SIGNOR curated interactions for NDUFS4 Gene

Drugs & Compounds for NDUFS4 Gene

(33) Drugs for NDUFS4 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Iron Approved, Experimental Pharma 1496
FAD Approved Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(35) Additional Compounds for NDUFS4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8

(1) ApexBio Compounds for NDUFS4 Gene

Compound Action Cas Number
Rotenone inhibitor of the mitochondrial complex I electron transport chain 83-79-4
genes like me logo Genes that share compounds with NDUFS4: view

Drug Products

Transcripts for NDUFS4 Gene

mRNA/cDNA for NDUFS4 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFS4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS4 Gene

No ASD Table

Relevant External Links for NDUFS4 Gene

GeneLoc Exon Structure for
NDUFS4

Expression for NDUFS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFS4 Gene

Protein differential expression in normal tissues from HIPED for NDUFS4 Gene

This gene is overexpressed in Brain (15.3) and Heart (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFS4 Gene



Protein tissue co-expression partners for NDUFS4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFS4

SOURCE GeneReport for Unigene cluster for NDUFS4 Gene:

Hs.528222

Evidence on tissue expression from TISSUES for NDUFS4 Gene

  • Heart(2.9)
  • Nervous system(2.9)
  • Muscle(2.8)
  • Eye(2.7)
  • Kidney(2.3)
  • Liver(2.3)
  • Lung(2.3)
  • Blood(2.2)
  • Gall bladder(2.2)
  • Intestine(2.1)
  • Lymph node(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFS4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS4 Gene

Orthologs for NDUFS4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS4 31 30
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS4 31 30
  • 92.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS4 31 30
  • 92.57 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS4 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs4 17 31 30
  • 88.19 (n)
rat
(Rattus norvegicus)
Mammalia Ndufs4 30
  • 87.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS4 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS4 31 30
  • 78.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS4 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs4 30
  • 77.58 (n)
Str.9005 30
zebrafish
(Danio rerio)
Actinopterygii ndufs4 31 30
  • 72.26 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12203 31
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lpd-5 31 30
  • 51.69 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons FRO1 30
  • 52.8 (n)
rice
(Oryza sativa)
Liliopsida Os07g0585800 30
  • 48.98 (n)
Species where no ortholog for NDUFS4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFS4 Gene

ENSEMBL:
Gene Tree for NDUFS4 (if available)
TreeFam:
Gene Tree for NDUFS4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFS4: view image

Paralogs for NDUFS4 Gene

Paralogs for NDUFS4 Gene

genes like me logo Genes that share paralogs with NDUFS4: view

Variants for NDUFS4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFS4 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
669914 Benign: not provided 53,560,967(+) G/T INTRON_VARIANT
669915 Benign: not provided 53,646,695(+) T/TC INTRON_VARIANT
669918 Benign: not provided 53,682,944(+) G/A INTRON_VARIANT
671561 Benign: not provided 53,658,684(+) T/G INTRON_VARIANT
672591 Likely Benign: not provided 53,561,049(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFS4 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFS4 Gene

Variant ID Type Subtype PubMed ID
dgv5666n100 CNV gain 25217958
esv2670735 CNV deletion 23128226
esv2678642 CNV deletion 23128226
esv3570145 CNV loss 25503493
esv3605072 CNV loss 21293372
esv3605073 CNV loss 21293372
esv3605074 CNV loss 21293372
esv3894190 CNV loss 25118596
esv5622 OTHER inversion 19470904
nsv4828 CNV deletion 18451855
nsv823073 CNV gain 20364138
nsv830298 CNV gain 17160897

Variation tolerance for NDUFS4 Gene

Residual Variation Intolerance Score: 58.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS4 Gene

Human Gene Mutation Database (HGMD)
NDUFS4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS4 Gene

Disorders for NDUFS4 Gene

MalaCards: The human disease database

(27) MalaCards diseases for NDUFS4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
leigh syndrome
  • ls
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
landau-kleffner syndrome
  • acquired epileptic aphasia
early-onset schizophrenia
  • early onset schizophrenia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS4_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) [MIM:252010]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. {ECO:0000269 PubMed:10944442, ECO:0000269 PubMed:11181577, ECO:0000269 PubMed:12616398, ECO:0000269 PubMed:19107570, ECO:0000269 PubMed:19364667, ECO:0000269 PubMed:9463323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NDUFS4 Gene

mitochondrial encephalomyopathy,characterized by vomiting,failure to thrive,hypotonia,fatal progressive evolution with normal muscle morphology and without increased lactate concentration

Additional Disease Information for NDUFS4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFS4: view

Publications for NDUFS4 Gene

  1. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. (PMID: 9463323) van den Heuvel L … Smeitink J (American journal of human genetics 1998) 2 3 4 23 54
  2. NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. (PMID: 19364667) Leshinsky-Silver E … Lerman-Sagie T (Molecular genetics and metabolism 2009) 3 4 23 54
  3. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. (PMID: 12616398) Bénit P … Rötig A (Human genetics 2003) 3 4 23 54
  4. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. (PMID: 11181577) Petruzzella V … Papa S (Human molecular genetics 2001) 3 4 23 54
  5. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54

Products for NDUFS4 Gene

Sources for NDUFS4 Gene