The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed t... See more...

Aliases for NDUFS1 Gene

Aliases for NDUFS1 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S1 2 3 5
  • NADH-Ubiquinone Oxidoreductase 75 KDa Subunit, Mitochondrial 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1, 75kDa (NADH-Coenzyme Q Reductase) 2 3
  • Complex I 75kDa Subunit 2 3
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1 (75kD) (NADH-Coenzyme Q Reductase) 2
  • Mitochondrial NADH-Ubiquinone Oxidoreductase 75 KDa Subunit 3
  • Complex I, Mitochondrial Respiratory Chain, 75-KD Subunit 3
  • Complex I-75kD 4
  • EC 1.6.99.3 4
  • EC 7.1.1.2 4
  • CI-75Kd 3
  • PRO1304 3
  • CI-75kD 4
  • CI-75k 3
  • MC1DN5 3

External Ids for NDUFS1 Gene

Previous GeneCards Identifiers for NDUFS1 Gene

  • GC02M205205
  • GC02M205712
  • GC02M206950
  • GC02M207188
  • GC02M207190
  • GC02M206813
  • GC02M206695
  • GC02M206986
  • GC02M198836

Summaries for NDUFS1 Gene

Entrez Gene Summary for NDUFS1 Gene

  • The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for NDUFS1 Gene

NDUFS1 (NADH:Ubiquinone Oxidoreductase Core Subunit S1) is a Protein Coding gene. Diseases associated with NDUFS1 include Mitochondrial Complex V Deficiency, Nuclear Type 1 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 GABAergic synapse. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is CIAO3.

UniProtKB/Swiss-Prot Summary for NDUFS1 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). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized.

Gene Wiki entry for NDUFS1 Gene

Additional gene information for NDUFS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFS1 Gene

Genomics for NDUFS1 Gene

GeneHancer (GH) Regulatory Elements for NDUFS1 Gene

Promoters and enhancers for NDUFS1 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 NDUFS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFS1

Top Transcription factor binding sites by QIAGEN in the NDUFS1 gene promoter:
  • AREB6
  • ATF6
  • Brachyury
  • C/EBPalpha
  • C/EBPbeta
  • CHOP-10
  • Elk-1
  • POU2F1
  • POU2F1a
  • STAT5A

Genomic Locations for NDUFS1 Gene

Genomic Locations for NDUFS1 Gene
chr2:206,114,817-206,159,519
(GRCh38/hg38)
Size:
44,703 bases
Orientation:
Minus strand
chr2:206,979,541-207,024,327
(GRCh37/hg19)
Size:
44,787 bases
Orientation:
Minus strand

Genomic View for NDUFS1 Gene

Genes around NDUFS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS1 Gene

Proteins for NDUFS1 Gene

  • Protein details for NDUFS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28331-NDUS1_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
    Protein Accession:
    P28331
    Secondary Accessions:
    • B4DIN9
    • B4DJA0
    • B4DPG1
    • B4DUC1
    • E7ENF3
    • Q53TR8
    • Q8N1C4
    • Q8TCC9

    Protein attributes for NDUFS1 Gene

    Size:
    727 amino acids
    Molecular mass:
    79468 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFS1 Gene

    Alternative splice isoforms for NDUFS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS1 Gene

Post-translational modifications for NDUFS1 Gene

  • Ubiquitination at Lys499
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NDUFS1 Gene

Domains & Families for NDUFS1 Gene

Gene Families for NDUFS1 Gene

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

Protein Domains for NDUFS1 Gene

Suggested Antigen Peptide Sequences for NDUFS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60586, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.5.3) (B4DJ81_HUMAN)
  • cDNA FLJ55978, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.5.3) (B4DJA0_HUMAN)
  • cDNA FLJ55879, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.5.3) (B4DPG1_HUMAN)
  • cDNA FLJ53201, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.5.3) (B4DUC1_HUMAN)
  • NADH dehydrogenase (Ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), isoform CRA_b (E5KRK5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28331

UniProtKB/Swiss-Prot:

NDUS1_HUMAN :
  • Belongs to the complex I 75 kDa subunit family.
Family:
  • Belongs to the complex I 75 kDa subunit family.
genes like me logo Genes that share domains with NDUFS1: view

Function for NDUFS1 Gene

Molecular function for NDUFS1 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). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized.
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 dehydrogenase (Q reductase),75kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 1,inner mitochondrial membrane

Enzyme Numbers (IUBMB) for NDUFS1 Gene

Phenotypes From GWAS Catalog for NDUFS1 Gene

Gene Ontology (GO) - Molecular Function for NDUFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15186778
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
GO:0009055 electron transfer activity NAS 1935949
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
genes like me logo Genes that share ontologies with NDUFS1: view
genes like me logo Genes that share phenotypes with NDUFS1: view

Human Phenotype Ontology for NDUFS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS1 Gene

MGI Knock Outs for NDUFS1:
  • Ndufs1 Ndufs1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFS1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for NDUFS1 Gene

Localization for NDUFS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS1 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 NDUFS1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 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 NDUFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005758 mitochondrial intermembrane space IDA 15186778
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NDUFS1: view

Pathways & Interactions for NDUFS1 Gene

genes like me logo Genes that share pathways with NDUFS1: view

Gene Ontology (GO) - Biological Process for NDUFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0008637 apoptotic mitochondrial changes IDA 15186778
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042773 ATP synthesis coupled electron transport IEA --
GO:0045333 cellular respiration IMP 15186778
genes like me logo Genes that share ontologies with NDUFS1: view

No data available for SIGNOR curated interactions for NDUFS1 Gene

Drugs & Compounds for NDUFS1 Gene

(7) Drugs for NDUFS1 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
Iron Approved, Experimental Pharma 1496
Coenzyme Q10 Approved, Investigational Nutra 159
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(4) Additional Compounds for NDUFS1 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 NDUFS1: view

Transcripts for NDUFS1 Gene

mRNA/cDNA for NDUFS1 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 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 NDUFS1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: - - - - - - - -
SP3: - - - - -
SP4:

Relevant External Links for NDUFS1 Gene

GeneLoc Exon Structure for
NDUFS1

Expression for NDUFS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFS1 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.6) and Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for NDUFS1 Gene

This gene is overexpressed in Heart (18.5), Frontal cortex (7.2), and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFS1 Gene



Protein tissue co-expression partners for NDUFS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFS1

SOURCE GeneReport for Unigene cluster for NDUFS1 Gene:

Hs.471207

Evidence on tissue expression from TISSUES for NDUFS1 Gene

  • Nervous system(4.9)
  • Kidney(4.6)
  • Liver(4.4)
  • Skin(2.7)
  • Muscle(2.5)
  • Heart(2.4)
  • Intestine(2.3)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS1 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 NDUFS1: view

No data available for mRNA Expression by UniProt/SwissProt for NDUFS1 Gene

Orthologs for NDUFS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS1 31 30
  • 99.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 95 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFS1 31 30
  • 94.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS1 31 30
  • 93.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs1 30
  • 91.1 (n)
mouse
(Mus musculus)
Mammalia Ndufs1 17 31 30
  • 90.74 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFS1 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS1 31 30
  • 78.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS1 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs1 30
  • 75.42 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufs1 31 30
  • 71.62 (n)
OneToOne
wufb33h05 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001653 30
  • 59.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta ND75 31 32 30
  • 57.61 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nuo-5 31 30
  • 58.59 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB1467 30
  • 58.54 (n)
rice
(Oryza sativa)
Liliopsida Os03g0713400 30
  • 58.16 (n)
Os.12117 30
barley
(Hordeum vulgare)
Liliopsida Hv.3751 30
wheat
(Triticum aestivum)
Liliopsida Ta.6543 30
corn
(Zea mays)
Liliopsida Zm.17248 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7103 31
  • 73 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01765 30
  • 55.75 (n)
Species where no ortholog for NDUFS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for NDUFS1 Gene

ENSEMBL:
Gene Tree for NDUFS1 (if available)
TreeFam:
Gene Tree for NDUFS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFS1: view image

Paralogs for NDUFS1 Gene

Paralogs for NDUFS1 Gene

genes like me logo Genes that share paralogs with NDUFS1: view

Variants for NDUFS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFS1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
669514 Benign: not provided 206,142,453(-) G/A INTRON_VARIANT
669516 Benign: not provided 206,138,947(-) T/C INTRON_VARIANT
669517 Benign: not provided 206,128,263(-) T/C INTRON_VARIANT
673221 Likely Benign: not provided 206,150,216(-) C/T INTRON_VARIANT
673222 Likely Benign: not provided 206,142,492(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFS1 Gene

Variant ID Type Subtype PubMed ID
esv2664428 CNV deletion 23128226
esv3594062 CNV loss 21293372
esv3893538 CNV loss 25118596
esv3893539 CNV loss 25118596
nsv821884 CNV gain 20364138
nsv821885 CNV gain 20364138

Variation tolerance for NDUFS1 Gene

Residual Variation Intolerance Score: 4.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS1 Gene

Human Gene Mutation Database (HGMD)
NDUFS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS1 Gene

Disorders for NDUFS1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for NDUFS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS1_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226]: 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. MC1DN5 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:11349233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFS1

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 NDUFS1: view

No data available for Genatlas for NDUFS1 Gene

Publications for NDUFS1 Gene

  1. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PMID: 11349233) Bénit P … Rötig A (American journal of human genetics 2001) 3 4 23 54
  2. Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase. (PMID: 1935949) Chow W … Robinson BH (European journal of biochemistry 1991) 2 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. 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 54

Products for NDUFS1 Gene

  • Signalway ELISA kits for NDUFS1
  • Signalway Proteins for NDUFS1

Sources for NDUFS1 Gene