This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009] See more...

Aliases for NDUFS3 Gene

Aliases for NDUFS3 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S3 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 3, Mitochondrial 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 30 KDa Subunit 3 4
  • Complex I 30kDa Subunit 2 3
  • Complex I-30kD 3 4
  • CI-30kD 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3 (30kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase-Ubiquinone 30 KDa Subunit 3
  • EC 1.6.99.5 52
  • EC 1.6.99.3 4
  • EC 7.1.1.2 4
  • MC1DN8 3
  • CI-30 3

External Ids for NDUFS3 Gene

Previous GeneCards Identifiers for NDUFS3 Gene

  • GC11P049512
  • GC11P048478
  • GC11P047632
  • GC11P047564
  • GC11P047544
  • GC11P047601
  • GC11P047301
  • GC11P047587

Summaries for NDUFS3 Gene

Entrez Gene Summary for NDUFS3 Gene

  • This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

GeneCards Summary for NDUFS3 Gene

NDUFS3 (NADH:Ubiquinone Oxidoreductase Core Subunit S3) is a Protein Coding gene. Diseases associated with NDUFS3 include Mitochondrial Complex I Deficiency, Nuclear Type 8 and Leigh Syndrome With Leukodystrophy. 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 electron transfer activity and oxidoreductase activity, acting on NAD(P)H.

UniProtKB/Swiss-Prot Summary for NDUFS3 Gene

  • 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 (By similarity).

Gene Wiki entry for NDUFS3 Gene

Additional gene information for NDUFS3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFS3 Gene

Genomics for NDUFS3 Gene

GeneHancer (GH) Regulatory Elements for NDUFS3 Gene

Promoters and enhancers for NDUFS3 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
GH11J047577 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +13.6 13629 3.3 RXRA FOXK2 ZBTB40 ZNF217 EP300 SIN3A MYC TCF12 USF1 POLR2G KBTBD4 ENSG00000231880 HSALNG0084071 NDUFS3 NUP160 FNBP4 CELF1 ENSG00000200090 C1QTNF4 AMBRA1
GH11J047564 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 565 3 ZNF217 TCF12 POLR2G PHF8 ZFX ZBTB5 POLR2A CLOCK ZBTB11 ZBTB26 CELF1 NDUFS3 PTPMT1 C1QTNF4 ENSG00000255197 PTPRJ piR-43104-006
GH11J047563 Enhancer 0.4 Ensembl 500.7 -1.8 -1835 1 FOSL1 MITF ATF3 JUND NDUFS3 PTPMT1 C1QTNF4 FNBP4 CELF1 FJ601666-013
GH11J047522 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 12.6 -40.6 -40621 3.8 JUND FOS TRIM28 MYC JUN ZEB1 ZNF341 OSR2 NCOR1 DEK CELF1 C1QTNF4 NDUFS3 PTPMT1 FAM180B ENSG00000231880 RNU5E-10P C11orf49 HQ292159 ENSG00000270072
GH11J047506 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -56.5 -56524 4.9 ZNF623 RFX1 CTBP1 TRIM22 BCL11A NCOR1 ZNF384 MYNN CEBPB RBBP5 C1QTNF4 CELF1 NDUFS3 PTPMT1 FAM180B KBTBD4 ENSG00000231880 RNU5E-10P MTCH2 FNBP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFS3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFS3

Top Transcription factor binding sites by QIAGEN in the NDUFS3 gene promoter:
  • aMEF-2
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • C/EBPbeta
  • ER-alpha
  • GATA-3
  • MEF-2A
  • Nkx2-5

Genomic Locations for NDUFS3 Gene

Genomic Locations for NDUFS3 Gene
chr11:47,565,336-47,584,563
(GRCh38/hg38)
Size:
19,228 bases
Orientation:
Plus strand
chr11:47,586,888-47,606,115
(GRCh37/hg19)
Size:
19,228 bases
Orientation:
Plus strand

Genomic View for NDUFS3 Gene

Genes around NDUFS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS3 Gene

Proteins for NDUFS3 Gene

  • Protein details for NDUFS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75489-NDUS3_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
    Protein Accession:
    O75489
    Secondary Accessions:
    • B2R9J1
    • B4DFM8
    • Q9UNQ8

    Protein attributes for NDUFS3 Gene

    Size:
    264 amino acids
    Molecular mass:
    30242 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3.

    Three dimensional structures from OCA and Proteopedia for NDUFS3 Gene

    Alternative splice isoforms for NDUFS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS3 Gene

Selected DME Specific Peptides for NDUFS3 Gene

O75489:
  • LTDYGFEG
  • RRILTDY
  • ANWYERE
  • GHPFRKDFPL
  • PFRKDFPLSG

Post-translational modifications for NDUFS3 Gene

  • Ubiquitination at Lys56, Lys200, and Lys232
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFS3 Gene

Domains & Families for NDUFS3 Gene

Gene Families for NDUFS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NDUFS3 Gene

Blocks:
  • NADH dehydrogenase (ubiquinone), 30 kDa subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFS3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57965, highly similar to NADH-ubiquinone oxidoreductase 30 kDa subunit, mitochondrial (EC 1.6.5.3) (B4DFM8_HUMAN)
  • NADH-ubiquinone oxidoreductase 30 kDa subunit (NDUS3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75489

UniProtKB/Swiss-Prot:

NDUS3_HUMAN :
  • Belongs to the complex I 30 kDa subunit family.
Family:
  • Belongs to the complex I 30 kDa subunit family.
genes like me logo Genes that share domains with NDUFS3: view

Function for NDUFS3 Gene

Molecular function for NDUFS3 Gene

UniProtKB/Swiss-Prot Function:
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 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA-COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=A + H(+) + NADH = AH2 + NAD(+); Xref=Rhea:RHEA:11356, ChEBI:CHEBI:13193, ChEBI:CHEBI:15378, ChEBI:CHEBI:17499, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.6.99.3;.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),30kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 3,containing casein kinase 2 phosphorylation site,inner mitochondrial membrane

Enzyme Numbers (IUBMB) for NDUFS3 Gene

Phenotypes From GWAS Catalog for NDUFS3 Gene

Gene Ontology (GO) - Molecular Function for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003954 NADH dehydrogenase activity IMP 11112787
GO:0005515 protein binding IPI 15250827
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9647766
GO:0009055 electron transfer activity NAS 9647766
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with NDUFS3: view
genes like me logo Genes that share phenotypes with NDUFS3: view

Human Phenotype Ontology for NDUFS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS3 Gene

MGI Knock Outs for NDUFS3:
  • Ndufs3 Ndufs3<tm1a(EUCOMM)Wtsi>

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for NDUFS3 Gene

Localization for NDUFS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS3 Gene

Mitochondrion inner membrane.

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 NDUFS3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 9647766
GO:0005743 mitochondrial inner membrane IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFS3: view

Pathways & Interactions for NDUFS3 Gene

genes like me logo Genes that share pathways with NDUFS3: view

Gene Ontology (GO) - Biological Process for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0021762 substantia nigra development HEP 22926577
GO:0030308 negative regulation of cell growth IMP 16826196
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFS3: view

No data available for SIGNOR curated interactions for NDUFS3 Gene

Drugs & Compounds for NDUFS3 Gene

(8) Drugs for NDUFS3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Doxorubicin Approved, Investigational Pharma Enzyme, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2036
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1496
Coenzyme Q10 Approved, Investigational Nutra 159

(4) Additional Compounds for NDUFS3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
Ubiquinol 8
  • Reduced coenzyme Q8
  • Ubiquinol(8)
  • Ubiquinol-8
74075-00-6
genes like me logo Genes that share compounds with NDUFS3: view

Transcripts for NDUFS3 Gene

mRNA/cDNA for NDUFS3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS3 Gene

No ASD Table

Relevant External Links for NDUFS3 Gene

GeneLoc Exon Structure for
NDUFS3

Expression for NDUFS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFS3 Gene

Protein differential expression in normal tissues from HIPED for NDUFS3 Gene

This gene is overexpressed in Heart (9.8), Frontal cortex (7.5), and Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFS3 Gene



Protein tissue co-expression partners for NDUFS3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFS3

SOURCE GeneReport for Unigene cluster for NDUFS3 Gene:

Hs.502528

Evidence on tissue expression from TISSUES for NDUFS3 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Skin(4.3)
  • Muscle(3.2)
  • Pancreas(3.1)
  • Heart(3)
  • Lung(2.7)
  • Blood(2.2)
  • Kidney(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS3 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 NDUFS3: 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 NDUFS3 Gene

Orthologs for NDUFS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS3 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS3 31 30
  • 90.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS3 31 30
  • 90.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs3 17 31 30
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Ndufs3 30
  • 85.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS3 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS3 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS3 31 30
  • 76.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS3 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs3 30
  • 71.41 (n)
LOC394690 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24382 30
zebrafish
(Danio rerio)
Actinopterygii ndufs3 31 30
  • 72.42 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8655 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006456 30
  • 64.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12079 31 32 30
  • 64.27 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nuo-2 31 30
  • 61.27 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons nad9 30
  • 57.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04074 30
  • 57.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3587 31
  • 52 (a)
OneToOne
Cin.1144 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1144 30
Species where no ortholog for NDUFS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NDUFS3 Gene

ENSEMBL:
Gene Tree for NDUFS3 (if available)
TreeFam:
Gene Tree for NDUFS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFS3: view image

Paralogs for NDUFS3 Gene

(29) SIMAP similar genes for NDUFS3 Gene using alignment to 6 proteins:

  • NDUS3_HUMAN
  • B4DFM8_HUMAN
  • E9PJE7_HUMAN
  • E9PKL8_HUMAN
  • E9PS48_HUMAN
  • G3V194_HUMAN
genes like me logo Genes that share paralogs with NDUFS3: view

No data available for Paralogs for NDUFS3 Gene

Variants for NDUFS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFS3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
638291 Uncertain Significance: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 47,582,124(+) C/T MISSENSE_VARIANT
683070 Benign: not provided 47,578,800(+) A/G INTRON_VARIANT
684320 Benign: not provided 47,581,177(+) C/T INTRON_VARIANT
718829 Likely Benign: not provided 47,582,402(+) C/T SYNONYMOUS_VARIANT
729614 Likely Benign: not provided 47,579,156(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFS3 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFS3 Gene

Variant ID Type Subtype PubMed ID
nsv314 CNV deletion 18451855
nsv509405 CNV insertion 20534489
nsv825872 CNV gain 20364138
nsv832142 CNV loss 17160897

Variation tolerance for NDUFS3 Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS3 Gene

Human Gene Mutation Database (HGMD)
NDUFS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS3 Gene

Disorders for NDUFS3 Gene

MalaCards: The human disease database

(15) MalaCards diseases for NDUFS3 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 8
  • mc1dn8
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
leigh syndrome
  • ls
late yaws
  • gummata and ulcers due to yaws
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS3_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230]: 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. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:14729820, ECO:0000269 PubMed:22499348, ECO:0000269 PubMed:30140060}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFS3

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 NDUFS3: view

No data available for Genatlas for NDUFS3 Gene

Publications for NDUFS3 Gene

  1. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. (PMID: 14729820) Bénit P … Rustin P (Journal of medical genetics 2004) 3 4 23 54
  2. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. (PMID: 30140060) Lou X … Lyu J (Journal of human genetics 2018) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41 54
  5. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PMID: 19463981) Saada A … Nijtmans LG (American journal of human genetics 2009) 3 4 54

Products for NDUFS3 Gene

Sources for NDUFS3 Gene