This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the el... See more...

Aliases for NDUFS8 Gene

Aliases for NDUFS8 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S8 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 8, Mitochondrial 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8, 23kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 23 KDa Subunit 3 4
  • Complex I 23kDa Subunit 2 3
  • Complex I-23kD 3 4
  • CI-23k 2 3
  • TYKY 2 3
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8 (23kD) (NADH-Coenzyme Q Reductase) 2
  • TYKY Subunit 4
  • EC 1.6.99.5 50
  • EC 7.1.1.2 4
  • CI-23kD 4
  • CI23KD 3
  • MC1DN2 3
  • NDUFS8 5

External Ids for NDUFS8 Gene

Previous GeneCards Identifiers for NDUFS8 Gene

  • GC11P070321
  • GC11P069494
  • GC11P068048
  • GC11P067573
  • GC11P067554
  • GC11P067798
  • GC11P064133

Summaries for NDUFS8 Gene

Entrez Gene Summary for NDUFS8 Gene

  • This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

GeneCards Summary for NDUFS8 Gene

NDUFS8 (NADH:Ubiquinone Oxidoreductase Core Subunit S8) is a Protein Coding gene. Diseases associated with NDUFS8 include Mitochondrial Complex Ii Deficiency, Nuclear Type 1 and Leigh Syndrome With Leukodystrophy. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot Summary for NDUFS8 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.

Gene Wiki entry for NDUFS8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFS8 Gene

Genomics for NDUFS8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NDUFS8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFS8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFS8

Top Transcription factor binding sites by QIAGEN in the NDUFS8 gene promoter:
  • AP-1
  • Fra-1
  • NF-1
  • NF-1/L
  • p53

Genomic Locations for NDUFS8 Gene

Latest Assembly
chr11:68,030,617-68,036,644
(GRCh38/hg38)
Size:
6,028 bases
Orientation:
Plus strand

Previous Assembly
chr11:67,798,148-67,804,111
(GRCh37/hg19 by Entrez Gene)
Size:
5,964 bases
Orientation:
Plus strand

chr11:67,798,084-67,804,111
(GRCh37/hg19 by Ensembl)
Size:
6,028 bases
Orientation:
Plus strand

Genomic View for NDUFS8 Gene

Genes around NDUFS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS8 Gene

Proteins for NDUFS8 Gene

  • Protein details for NDUFS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00217-NDUS8_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
    Protein Accession:
    O00217
    Secondary Accessions:
    • B2RB86
    • Q0VDA8

    Protein attributes for NDUFS8 Gene

    Size:
    210 amino acids
    Molecular mass:
    23705 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits (PubMed:12611891). This is a component of the iron-sulfur (IP) fragment of the enzyme (PubMed:12611891). Interacts with RAB5IF (PubMed:31536960).

    Three dimensional structures from OCA and Proteopedia for NDUFS8 Gene

neXtProt entry for NDUFS8 Gene

Selected DME Specific Peptides for NDUFS8 Gene

O00217:
  • CPAQAITIEA
  • SPRFRGEHALRRYP

Post-translational modifications for NDUFS8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NDUFS8 Gene

Gene Families for NDUFS8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NDUFS8 Gene

Suggested Antigen Peptide Sequences for NDUFS8 Gene

GenScript: Design optimal peptide antigens:
  • TYKY subunit (NDUS8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00217

UniProtKB/Swiss-Prot:

NDUS8_HUMAN :
  • Belongs to the complex I 23 kDa subunit family.
Family:
  • Belongs to the complex I 23 kDa subunit family.
genes like me logo Genes that share domains with NDUFS8: view

Function for NDUFS8 Gene

Molecular function for NDUFS8 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.
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; Evidence={ECO:0000250|UniProtKB:Q56224};.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),23kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 8,inner mitochondrial membrane,TYKY subunit required for proper assembly of complex I

Enzyme Numbers (IUBMB) for NDUFS8 Gene

Phenotypes From GWAS Catalog for NDUFS8 Gene

Gene Ontology (GO) - Molecular Function for NDUFS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003954 contributes_to NADH dehydrogenase activity IBA,IMP 14749350
GO:0005515 protein binding IPI 31536960
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 9878551
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
genes like me logo Genes that share ontologies with NDUFS8: view
genes like me logo Genes that share phenotypes with NDUFS8: view

Human Phenotype Ontology for NDUFS8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for NDUFS8 Gene

miRTarBase miRNAs that target NDUFS8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFS8

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFS8 Gene

Localization for NDUFS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS8 Gene

Mitochondrion.

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 NDUFS8 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 9666055
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFS8: view

Pathways & Interactions for NDUFS8 Gene

genes like me logo Genes that share pathways with NDUFS8: view

Gene Ontology (GO) - Biological Process for NDUFS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0006979 response to oxidative stress IDA 12857734
GO:0009060 aerobic respiration IBA 21873635
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFS8: view

No data available for SIGNOR curated interactions for NDUFS8 Gene

Drugs & Compounds for NDUFS8 Gene

(7) Drugs for NDUFS8 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Coenzyme Q10 Approved, Investigational Nutra 197
Fe2+ Experimental Pharma 0
NAD Experimental Pharma 0

(5) Additional Compounds for NDUFS8 Gene - From: HMDB and Novoseek

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
  • Sulphide(2-)
18496-25-8
Ubiquinol 8
  • Reduced coenzyme Q8
  • Ubiquinol(8)
  • Ubiquinol-8
74075-00-6
genes like me logo Genes that share compounds with NDUFS8: view

Transcripts for NDUFS8 Gene

mRNA/cDNA for NDUFS8 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFS8

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - -
SP11: - - - - - - - - - - - -
SP12: - - - -
SP13: - - -
SP14: -
SP15: - - - - -
SP16: - - - - -

ExUns: 12a · 12b · 12c · 12d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for NDUFS8 Gene

GeneLoc Exon Structure for
NDUFS8

Expression for NDUFS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFS8 Gene

This gene is overexpressed in Heart (9.3) and Brain (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFS8 Gene



Protein tissue co-expression partners for NDUFS8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFS8

SOURCE GeneReport for Unigene cluster for NDUFS8 Gene:

Hs.90443

mRNA Expression by UniProt/SwissProt for NDUFS8 Gene:

O00217-NDUS8_HUMAN
Tissue specificity: Expressed in all tissues with the highest level in heart and skeletal muscle and the lowest level in lung.

Evidence on tissue expression from TISSUES for NDUFS8 Gene

  • Liver(4.5)
  • Nervous system(4.1)
  • Muscle(3.1)
  • Heart(2.8)
  • Eye(2.7)
  • Kidney(2.4)
  • Skin(2.3)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS8 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 NDUFS8: view

Primer products for research

No data available for mRNA differential expression in normal tissues for NDUFS8 Gene

Orthologs for NDUFS8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NDUFS8 29 30
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NDUFS8 29 30 30
  • 89.37 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia NDUFS8 29 30
  • 89.37 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NDUFS8 30
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ndufs8 29
  • 87.61 (n)
Mouse
(Mus musculus)
Mammalia Ndufs8 29 16 30
  • 84.7 (n)
OneToOne
Chicken
(Gallus gallus)
Aves NDUFS8 29 30
  • 85.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NDUFS8 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ndufs8 29
  • 72.19 (n)
Str.10935 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.33470 29
Zebrafish
(Danio rerio)
Actinopterygii ndufs8a 29 30
  • 76.52 (n)
OneToMany
ndufs8b 30
  • 76 (a)
OneToMany
wufb30b07 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001711 29
  • 79.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ND23 29 30 31
  • 75.61 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T20H4.5 29 30 31
  • 66.48 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G16700 29
  • 68.29 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3354 29
Soybean
(Glycine max)
eudicotyledons Gma.4918 29
Rice
(Oryza sativa)
Liliopsida Os03g0774200 29
  • 69.72 (n)
Os.11902 29
Barley
(Hordeum vulgare)
Liliopsida Hv.3289 29
Wheat
(Triticum aestivum)
Liliopsida Ta.9617 29
Corn
(Zea mays)
Liliopsida Zm.14014 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2781 30
  • 73 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU05009 29
  • 69.28 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12246 29
Species where no ortholog for NDUFS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NDUFS8 Gene

ENSEMBL:
Gene Tree for NDUFS8 (if available)
TreeFam:
Gene Tree for NDUFS8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFS8: view image
Alliance of Genome Resources:
Additional Orthologs for NDUFS8

Paralogs for NDUFS8 Gene

No data available for Paralogs for NDUFS8 Gene

Variants for NDUFS8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFS8 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1032831 Uncertain Significance: Leigh syndrome 68,032,204(+) G/T
NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu)
MISSENSE
877478 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 68,032,156(+) G/A
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)
MISSENSE
882092 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 68,033,180(+) C/T
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)
MISSENSE
884038 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 68,036,534(+) G/A
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)
MISSENSE
917536 Uncertain Significance: Mitochondrial complex 1 deficiency, nuclear type 2 68,036,264(+) C/G
NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NDUFS8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NDUFS8 Gene

Variant ID Type Subtype PubMed ID
dgv1221n100 CNV gain 25217958
dgv156n27 CNV loss 19166990
dgv1981n54 CNV gain 21841781
dgv1983n54 CNV loss 21841781
dgv1984n54 CNV loss 21841781
esv2672926 CNV deletion 23128226
esv2744657 CNV deletion 23290073
esv2759835 CNV gain+loss 17122850
esv3626731 CNV loss 21293372
nsv468606 CNV gain 19166990
nsv468615 CNV loss 19166990
nsv469856 CNV gain 16826518
nsv469964 CNV loss 18288195
nsv555278 CNV loss 21841781
nsv555282 CNV loss 21841781
nsv825963 CNV gain 20364138
nsv8836 CNV gain 18304495
nsv951026 CNV deletion 24416366

Variation tolerance for NDUFS8 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS8 Gene

Human Gene Mutation Database (HGMD)
NDUFS8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS8
Leiden Open Variation Database (LOVD)
NDUFS8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS8 Gene

Disorders for NDUFS8 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NDUFS8 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS8_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]: 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. MC1DN2 inheritance is autosomal recessive. {ECO:0000269 PubMed:15159508, ECO:0000269 PubMed:16142472, ECO:0000269 PubMed:22499348, ECO:0000269 PubMed:9837812}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NDUFS8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NDUFS8: view

No data available for Genatlas for NDUFS8 Gene

Publications for NDUFS8 Gene

  1. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. (PMID: 15159508) Procaccio V … Wallace DC (Neurology 2004) 3 4 22 72
  2. Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase. (PMID: 9666055) de Sury R … Issartel JP (Gene 1998) 2 3 4 22
  3. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. (PMID: 9837812) Loeffen J … van den Heuvel L (American journal of human genetics 1998) 3 4 22 72
  4. cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. (PMID: 9116042) Procaccio V … Issartel JP (Biochimica et biophysica acta 1997) 2 3 4 22
  5. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3 4

Products for NDUFS8 Gene

Sources for NDUFS8 Gene