NDUFS6 Gene (Protein Coding)

NADH:Ubiquinone Oxidoreductase Subunit S6

GC05P001801
GIFtS:
45
This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitoch... See more...

Aliases for NDUFS6 Gene

Aliases for NDUFS6 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit S6 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 6, Mitochondrial 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 6, 13kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 13 KDa-A Subunit 3 4
  • Complex I 13kDa Subunit A 2 3
  • CI-13kD-A 3 4
  • CI-13kA 2 3
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 6 (13kD) (NADH-Coenzyme Q Reductase) 2
  • Complex I, Mitochondrial Respiratory Chain, 13-KD Subunit 3
  • NADH:Ubiquinone Oxidoreductase NDUFS6 Subunit 3
  • Complex I-13kD-A 4
  • CI13KDA 3
  • MC1DN9 3
  • NDUFS6 5

External Ids for NDUFS6 Gene

Previous GeneCards Identifiers for NDUFS6 Gene

  • GC05P001942
  • GC05P001834
  • GC05P001854

Summaries for NDUFS6 Gene

Entrez Gene Summary for NDUFS6 Gene

  • This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

GeneCards Summary for NDUFS6 Gene

NDUFS6 (NADH:Ubiquinone Oxidoreductase Subunit S6) is a Protein Coding gene. Diseases associated with NDUFS6 include Mitochondrial Complex I Deficiency, Nuclear Type 9 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include electron transfer activity and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFS6 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 NDUFS6 Gene

Additional gene information for NDUFS6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFS6 Gene

Genomics for NDUFS6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NDUFS6 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 NDUFS6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFS6

Top Transcription factor binding sites by QIAGEN in the NDUFS6 gene promoter:
  • aMEF-2
  • c-Myb
  • ER-alpha
  • GATA-1
  • MEF-2A
  • MIF-1
  • Nkx2-5
  • Pax-2
  • Pax-2a
  • RFX1

Genomic Locations for NDUFS6 Gene

Latest Assembly
chr5:1,801,407-1,816,048
(GRCh38/hg38)
Size:
14,642 bases
Orientation:
Plus strand

Previous Assembly
chr5:1,801,521-1,816,162
(GRCh37/hg19 by Entrez Gene)
Size:
14,642 bases
Orientation:
Plus strand

chr5:1,801,514-1,816,719
(GRCh37/hg19 by Ensembl)
Size:
15,206 bases
Orientation:
Plus strand

Genomic View for NDUFS6 Gene

Genes around NDUFS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NDUFS6 Gene

Proteins for NDUFS6 Gene

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  • Protein details for NDUFS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75380-NDUS6_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
    Protein Accession:
    O75380

    Protein attributes for NDUFS6 Gene

    Size:
    124 amino acids
    Molecular mass:
    13712 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits (PubMed:12611891, PubMed:27626371). This is a component of the iron-sulfur (IP) fragment of the enzyme (PubMed:12611891).

    Three dimensional structures from OCA and Proteopedia for NDUFS6 Gene

neXtProt entry for NDUFS6 Gene

Protein Expression for NDUFS6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NDUFS6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFS6 Gene

Domains & Families for NDUFS6 Gene

Gene Families for NDUFS6 Gene

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

Protein Domains for NDUFS6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFS6 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase 13 kDa-A subunit (NDUS6_HUMAN)
  • cDNA FLJ12441 fis, clone NT2RM1000132, highly similar to NADH-ubiquinone oxidoreductase 13 kDa-A subunit, mitochondrial (EC 1.6.5.3) (Q6IBC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75380

UniProtKB/Swiss-Prot:

NDUS6_HUMAN :
  • Belongs to the complex I NDUFS6 subunit family.
Family:
  • Belongs to the complex I NDUFS6 subunit family.
genes like me logo Genes that share domains with NDUFS6: view

Function for NDUFS6 Gene

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  6. Cell Lines for research

Molecular function for NDUFS6 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 ubiquinone oxidoreductase (Q reductase),13kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 6,inner mitochondrial membrane

Phenotypes From GWAS Catalog for NDUFS6 Gene

Gene Ontology (GO) - Molecular Function for NDUFS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9647766
GO:0009055 electron transfer activity NAS 9647766
genes like me logo Genes that share ontologies with NDUFS6: view
genes like me logo Genes that share phenotypes with NDUFS6: view

Human Phenotype Ontology for NDUFS6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for NDUFS6 Gene

miRTarBase miRNAs that target NDUFS6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFS6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFS6 Gene

Localization for NDUFS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS6 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 NDUFS6 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NDUFS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFS6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFS6 Gene

Pathways & Interactions for NDUFS6 Gene

genes like me logo Genes that share pathways with NDUFS6: view

Gene Ontology (GO) - Biological Process for NDUFS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFS6: view

No data available for SIGNOR curated interactions for NDUFS6 Gene

Drugs & Compounds for NDUFS6 Gene

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(6) Drugs for NDUFS6 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
Fe2+ Experimental Pharma 0
NAD Experimental Pharma 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFS6 Gene - From: 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
  • Sulphide(2-)
 18496-25-8
genes like me logo Genes that share compounds with NDUFS6: view

Transcripts for NDUFS6 Gene

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mRNA/cDNA for NDUFS6 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 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 NDUFS6

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS6 Gene

No ASD Table

Relevant External Links for NDUFS6 Gene

GeneLoc Exon Structure for
NDUFS6

Expression for NDUFS6 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFS6 Gene

mRNA expression in normal human tissues for NDUFS6 Gene
mRNA expression by GTEx for NDUFS6 GenemRNA expression by BioGPS for NDUFS6 Gene

mRNA differential expression in normal tissues according to GTEx for NDUFS6 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.1).

Protein differential expression in normal tissues from HIPED for NDUFS6 Gene

This gene is overexpressed in Heart (11.2), Peripheral blood mononuclear cells (7.4), and Brain (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFS6 Gene



Protein tissue co-expression partners for NDUFS6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFS6

SOURCE GeneReport for Unigene cluster for NDUFS6 Gene:

Hs.408257

Evidence on tissue expression from TISSUES for NDUFS6 Gene

  • Liver(4.5)
  • Skin(4.4)
  • Lung(4.3)
  • Heart(2.9)
  • Muscle(2.7)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS6 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:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFS6: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NDUFS6 Gene

Orthologs for NDUFS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFS6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NDUFS6 30 31
  • 99.73 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NDUFS6 31
  • 85 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NDUFS6 30 31
  • 83.06 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ndufs6 30 17 31
  • 82.76 (n)
 OneToOne
Ndufs6b 17
Rat
(Rattus norvegicus)
 Mammalia LOC679739 30
  • 81.9 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 79 (a)
 OneToMany
-- 31
  • 77 (a)
 OneToMany
-- 31
  • 77 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia NDUFS6 31
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NDUFS6 30 31
  • 71 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NDUFS6 31
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ndufs6 30
  • 70.59 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7070 30
Zebrafish
(Danio rerio)
 Actinopterygii ndufs6 30 31
  • 66.67 (n)
 OneToOne
Dr.15123 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG8680 30 31
  • 59 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009072 30
  • 55.26 (n)
Worm
(Caenorhabditis elegans)
 Secernentea nduf-6 30 31
  • 53.1 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5753 31
  • 38 (a)
 OneToOne
Species where no ortholog for NDUFS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NDUFS6 Gene

ENSEMBL:
Gene Tree for NDUFS6 (if available)
TreeFam:
Gene Tree for NDUFS6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFS6: view image

Paralogs for NDUFS6 Gene

Pseudogenes.org Pseudogenes for NDUFS6 Gene

genes like me logo Genes that share paralogs with NDUFS6: view

No data available for Paralogs for NDUFS6 Gene

Variants for NDUFS6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFS6 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
904123 Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 1,801,428(+) C/T
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) 		MISSENSE
906499 Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 1,815,962(+) C/T
NM_004553.6(NDUFS6):c.*46C>T 		THREE_PRIME_UTR
906500 Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 1,816,015(+) G/C
NM_004553.6(NDUFS6):c.*99G>C 		THREE_PRIME_UTR
983268 Likely Pathogenic: Mitochondrial complex 1 deficiency, nuclear type 9 1,814,466(+) G/A
NM_004553.6(NDUFS6):c.309+5G>A 		INTRON
983422 Uncertain Significance: Intellectual disability 1,801,419(+) T/G
NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg) 		INITIATIOR_CODON_VARIANT,MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NDUFS6 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 NDUFS6 Gene

Variant ID Type Subtype PubMed ID
esv3603817 CNV gain 21293372
nsv1033147 CNV gain 25217958
nsv1140355 OTHER inversion 24896259

Variation tolerance for NDUFS6 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS6 Gene

Human Gene Mutation Database (HGMD)
NDUFS6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS6 Gene

Disorders for NDUFS6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NDUFS6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS6_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232]: 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. MC1DN9 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:15372108, ECO:0000269 PubMed:19259137}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NDUFS6

Genetic Association Database
(GAD)
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 NDUFS6: view

No data available for Genatlas for NDUFS6 Gene

Publications for NDUFS6 Gene

  1. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. (PMID: 15372108) Kirby DM … Thorburn DR (The Journal of clinical investigation 2004) 3 4 74
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  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
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 41

ExternalLinks

View latest publications for NDUFS6 gene in Mastermind

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