This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immed... See more...

Aliases for NDUFS7 Gene

Aliases for NDUFS7 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S7 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 7, Mitochondrial 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7, 20kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 20 KDa Subunit 3 4
  • Complex I 20kDa Subunit 2 3
  • Complex I-20kD 3 4
  • PSST Subunit 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7 (20kD) (NADH-Coenzyme Q Reductase) 2
  • Complex I, Mitochondrial Respiratory Chain, 20-KD Subunit 3
  • NADH:Ubiquinone Oxidoreductase PSST Subunit 3
  • NADH-Coenzyme Q Reductase 3
  • EC 1.6.99.5 52
  • EC 1.6.99.3 4
  • EC 7.1.1.2 4
  • CI-20KD 3
  • CI-20kD 4
  • MC1DN3 3
  • CI-20 3
  • MY017 3
  • PSST 3

External Ids for NDUFS7 Gene

Previous GeneCards Identifiers for NDUFS7 Gene

  • GC19P001441
  • GC19P001453
  • GC19P001323
  • GC19P001334
  • GC19P001158
  • GC19P001384
  • GC19P001439

Summaries for NDUFS7 Gene

Entrez Gene Summary for NDUFS7 Gene

  • This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

GeneCards Summary for NDUFS7 Gene

NDUFS7 (NADH:Ubiquinone Oxidoreductase Core Subunit S7) is a Protein Coding gene. Diseases associated with NDUFS7 include Mitochondrial Complex Iii Deficiency, Nuclear Type 1 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 protease binding and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot Summary for NDUFS7 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 NDUFS7 Gene

Additional gene information for NDUFS7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFS7 Gene

Genomics for NDUFS7 Gene

GeneHancer (GH) Regulatory Elements for NDUFS7 Gene

Promoters and enhancers for NDUFS7 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 NDUFS7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFS7

Top Transcription factor binding sites by QIAGEN in the NDUFS7 gene promoter:
  • c-Myb
  • COMP1
  • Evi-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • RORalpha1
  • SRF
  • SRF (504 AA)
  • STAT5A

Genomic Locations for NDUFS7 Gene

Genomic Locations for NDUFS7 Gene
chr19:1,383,527-1,395,589
(GRCh38/hg38)
Size:
12,063 bases
Orientation:
Plus strand
chr19:1,383,526-1,395,588
(GRCh37/hg19)
Size:
12,063 bases
Orientation:
Plus strand

Genomic View for NDUFS7 Gene

Genes around NDUFS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS7 Gene

Proteins for NDUFS7 Gene

  • Protein details for NDUFS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75251-NDUS7_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
    Protein Accession:
    O75251
    Secondary Accessions:
    • B3KRI2
    • Q2T9H7
    • Q9BV17

    Protein attributes for NDUFS7 Gene

    Size:
    213 amino acids
    Molecular mass:
    23564 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme.
    SequenceCaution:
    • Sequence=AAC27669.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NDUFS7 Gene

    Alternative splice isoforms for NDUFS7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS7 Gene

Selected DME Specific Peptides for NDUFS7 Gene

O75251:
  • FRASPRQ
  • RASPRQSD
  • RYDMDRFG
  • QMPEPRYV
  • NKMAPALRKVYDQMPEPR
  • YGILQLQ

Post-translational modifications for NDUFS7 Gene

  • Hydroxylated ar Arg-111 by NDUFAF5 early in the pathway of assembly of complex I, before the formation of the juncture between peripheral and membrane arms.
  • Ubiquitination at Lys129
  • Modification sites at PhosphoSitePlus

Domains & Families for NDUFS7 Gene

Gene Families for NDUFS7 Gene

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

Protein Domains for NDUFS7 Gene

Blocks:
  • NADH dehydrogenase (ubiquinone), 20 kDa subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFS7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ34304 fis, clone FEBRA2007880, highly similar to NADH-ubiquinone oxidoreductase 20 kDa subunit, mitochondrial (EC 1.6.5.3) (B3KRI2_HUMAN)
  • PSST subunit (NDUS7_HUMAN)
  • cDNA FLJ45860 fis, clone OCBBF2036019, moderately similar to NADH-ubiquinone oxidoreductase 20 kDa subunit, mitochondrial (EC 1.6.5.3) (Q6ZS38_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75251

UniProtKB/Swiss-Prot:

NDUS7_HUMAN :
  • Belongs to the complex I 20 kDa subunit family.
Family:
  • Belongs to the complex I 20 kDa subunit family.
genes like me logo Genes that share domains with NDUFS7: view

Function for NDUFS7 Gene

Molecular function for NDUFS7 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;.
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),20kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 7,inner mitochondrial membrane

Enzyme Numbers (IUBMB) for NDUFS7 Gene

Phenotypes From GWAS Catalog for NDUFS7 Gene

Gene Ontology (GO) - Molecular Function for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0003954 contributes_to NADH dehydrogenase activity IMP,IBA 14749350
GO:0005515 protein binding IPI 15186778
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 9878551
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with NDUFS7: view
genes like me logo Genes that share phenotypes with NDUFS7: view

Human Phenotype Ontology for NDUFS7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS7 Gene

MGI Knock Outs for NDUFS7:
  • Ndufs7 Ndufs7<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFS7

No data available for Transcription Factor Targets and HOMER Transcription for NDUFS7 Gene

Localization for NDUFS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS7 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 NDUFS7 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with NDUFS7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFS7 Gene

Pathways & Interactions for NDUFS7 Gene

genes like me logo Genes that share pathways with NDUFS7: view

Gene Ontology (GO) - Biological Process for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0009060 aerobic respiration IBA 21873635
GO:0015990 electron transport coupled proton transport 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 NDUFS7: view

No data available for SIGNOR curated interactions for NDUFS7 Gene

Drugs & Compounds for NDUFS7 Gene

(8) Drugs for NDUFS7 Gene - From: DrugBank and HMDB

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 NDUFS7 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 NDUFS7: view

Transcripts for NDUFS7 Gene

mRNA/cDNA for NDUFS7 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
20 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 NDUFS7

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS7 Gene

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

Relevant External Links for NDUFS7 Gene

GeneLoc Exon Structure for
NDUFS7

Expression for NDUFS7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFS7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFS7 Gene

This gene is overexpressed in Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NDUFS7 Gene



Protein tissue co-expression partners for NDUFS7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFS7

SOURCE GeneReport for Unigene cluster for NDUFS7 Gene:

Hs.211914

Evidence on tissue expression from TISSUES for NDUFS7 Gene

  • Nervous system(4.8)
  • Muscle(3.4)
  • Heart(3.1)
  • Liver(2.7)
  • Intestine(2.6)
  • Kidney(2.5)
  • Stomach(2.5)
  • Blood(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS7 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 NDUFS7: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS7 Gene

Orthologs for NDUFS7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS7 31 30
  • 99.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS7 31 30
  • 88.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS7 31 30
  • 87.11 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs7 30
  • 82.62 (n)
mouse
(Mus musculus)
Mammalia Ndufs7 17 31 30
  • 82.22 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFS7 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS7 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS7 31 30
  • 80.07 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs7 30
  • 66.82 (n)
Str.7398 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.13717 30
zebrafish
(Danio rerio)
Actinopterygii ndufs7 31 30
  • 67.76 (n)
OneToOne
wufj19d10 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.983 30
fruit fly
(Drosophila melanogaster)
Insecta CG9172 31 32 30
  • 73.17 (n)
OneToMany
CG2014 31 32
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003231 30
  • 71.28 (n)
worm
(Caenorhabditis elegans)
Secernentea W10D5.2 32
  • 68 (a)
nduf-7 31 30
  • 64.57 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11770 30
  • 64.56 (n)
soybean
(Glycine max)
eudicotyledons Gma.4356 30
rice
(Oryza sativa)
Liliopsida Os05g0533700 30
  • 78 (n)
Os.41838 30
barley
(Hordeum vulgare)
Liliopsida Hv.5857 30
corn
(Zea mays)
Liliopsida Zm.15891 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03953 30
  • 66.17 (n)
Species where no ortholog for NDUFS7 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFS7 Gene

ENSEMBL:
Gene Tree for NDUFS7 (if available)
TreeFam:
Gene Tree for NDUFS7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFS7: view image

Paralogs for NDUFS7 Gene

(24) SIMAP similar genes for NDUFS7 Gene using alignment to 6 proteins:

  • NDUS7_HUMAN
  • B3KRI2_HUMAN
  • F5GXJ1_HUMAN
  • F5H5N1_HUMAN
  • F5H736_HUMAN
  • K7ENU3_HUMAN
genes like me logo Genes that share paralogs with NDUFS7: view

No data available for Paralogs for NDUFS7 Gene

Variants for NDUFS7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFS7 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
671566 Likely Benign: not provided 1,384,247(+) C/T INTRON_VARIANT
671666 Benign: not provided 1,390,840(+) G/A INTRON_VARIANT
672592 Benign: not provided 1,383,551(+) G/C
682529 Likely Benign: not provided 1,388,508(+) G/A INTRON_VARIANT
683138 Benign: not provided 1,388,321(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFS7 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFS7 Gene

Variant ID Type Subtype PubMed ID
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
esv3643389 CNV gain 21293372
esv3643395 CNV loss 21293372
esv3643396 CNV gain 21293372
nsv1055164 CNV gain 25217958
nsv482207 CNV gain 20164927
nsv578278 CNV loss 21841781
nsv833705 CNV loss 17160897
nsv953942 CNV deletion 24416366

Variation tolerance for NDUFS7 Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.89; 79.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS7 Gene

Human Gene Mutation Database (HGMD)
NDUFS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS7 Gene

Disorders for NDUFS7 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NDUFS7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 1
  • mc3dn1
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
leigh syndrome
  • ls
liver disease
  • disorder of liver
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS7_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 3 (MC1DN3) [MIM:618224]: 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. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:10330338, ECO:0000269 PubMed:10360771}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFS7

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 NDUFS7: view

No data available for Genatlas for NDUFS7 Gene

Publications for NDUFS7 Gene

  1. Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13. (PMID: 8938450) Hyslop SJ … Robinson BH (Genomics 1996) 2 3 4 23 54
  2. NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I. (PMID: 27226634) Rhein VF … Walker JE (The Journal of biological chemistry 2016) 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. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr JM … Deary IJ (Mechanisms of ageing and development 2008) 3 41 54
  5. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. (PMID: 18435906) Koopman WJ … Willems PH (Biochimica et biophysica acta 2008) 3 23 54

Products for NDUFS7 Gene

Sources for NDUFS7 Gene