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Aliases for NDUFS7 Gene

Aliases for NDUFS7 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S7 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7, 20kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 7, Mitochondrial 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 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-20KD 3
  • CI-20kD 4
  • CI-20 3
  • MY017 3
  • PSST 3

External Ids for NDUFS7 Gene

Previous GeneCards Identifiers for NDUFS7 Gene

  • GC19P001441
  • GC19P001453
  • GC19P001323
  • GC19P001334
  • GC19P001158

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 Leigh Syndrome and Leigh Syndrome With Leukodystrophy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include protease binding and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for NDUFS7 Gene

Genomics for NDUFS7 Gene

GeneHancer (GH) Regulatory Elements for NDUFS7 Gene

Promoters and enhancers for NDUFS7 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
GH19J001382 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.5 499 2.2 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NDUFS7 TRF-GAA1-6 TRN-GTT2-6 PIR60227 PIR43938 SF3A2 CIRBP TMEM259 DAZAP1 LOC100288123
GH19J001381 Enhancer 0.8 ENCODE dbSUPER 650.7 -2.0 -1979 0.8 SOX5 SAP130 ZIC2 RAD21 MITF HDAC2 GLIS1 KDM1A ZNF600 PRDM10 NDUFS7 TRF-GAA1-6 ENSG00000267755
GH19J001851 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.2 +474.9 474947 14.9 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ZNF610 KLF16 ENSG00000267141 GC19M001854 SF3A2 LOC100288123 TMEM259 CIRBP ATP8B3 GRIN3B DAZAP1
GH19J001394 Enhancer 1 ENCODE dbSUPER 0.4 +11.2 11180 0.2 PKNOX1 INSM2 KLF17 NFXL1 GLI4 KLF14 ZNF2 GLIS2 ZNF366 ZFP91 ENSG00000248015 CIRBP TMEM259 ENSG00000267283 SF3A2 GRIN3B ENSG00000261526 TCF3 MED16 LOC100288123
GH19J001395 Enhancer 0.8 dbSUPER 0.4 +12.6 12573 1.5 KLF17 KLF14 ZNF2 POLR2B ZNF23 GLIS2 EGR2 SP3 RXRA SP1 ENSG00000248015 MUM1 ENSG00000267666 AP3D1 ENSG00000280486 NDUFS7
- 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

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

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

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

No data available for DME Specific Peptides for NDUFS7 Gene

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

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:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + acceptor = NAD(+) + reduced acceptor.
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:0003954 contributes_to NADH dehydrogenase activity IMP 14749350
GO:0005515 protein binding IPI 15186778
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,IEA 9878551
GO:0016491 oxidoreductase activity IEA --
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor NAS 8938450
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 2
nucleus 2
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0043005 neuron projection 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 --
GO:0015990 electron transport coupled proton transport IBA --
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, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Doxorubicin Approved, Investigational Pharma Enzyme Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1828
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1828
FAD Approved Pharma 0
Coenzyme Q10 Approved, Investigational Nutra 129

(5) Additional Compounds for NDUFS7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
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

Unigene Clusters for NDUFS7 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase):
Representative Sequences:

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
ECgene alternative splicing isoforms for
NDUFS7

Expression for NDUFS7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of NDUFS7 Gene:

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 34 33
  • 99.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS7 34 33
  • 88.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS7 34 33
  • 87.11 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs7 33
  • 82.62 (n)
mouse
(Mus musculus)
Mammalia Ndufs7 16 34 33
  • 82.22 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFS7 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS7 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS7 34 33
  • 80.07 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs7 33
  • 66.82 (n)
Str.7398 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13717 33
zebrafish
(Danio rerio)
Actinopterygii ndufs7 34 33
  • 67.76 (n)
OneToOne
wufj19d10 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.983 33
fruit fly
(Drosophila melanogaster)
Insecta CG9172 34 35 33
  • 73.17 (n)
OneToMany
CG2014 34 35
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003231 33
  • 71.28 (n)
worm
(Caenorhabditis elegans)
Secernentea W10D5.2 35
  • 68 (a)
nduf-7 34 33
  • 64.57 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11770 33
  • 64.56 (n)
soybean
(Glycine max)
eudicotyledons Gma.4356 33
rice
(Oryza sativa)
Liliopsida Os05g0533700 33
  • 78 (n)
Os.41838 33
corn
(Zea mays)
Liliopsida Zm.15891 33
barley
(Hordeum vulgare)
Liliopsida Hv.5857 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03953 33
  • 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 from dbSNP and Humsavar for NDUFS7 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs104894705 pathogenic, Leigh syndrome due to mitochondrial complex I deficiency, not provided, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 1,391,006(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1142530 likely-benign, not specified, Leigh syndrome, Mitochondrial complex I deficiency 1,388,539(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11551663 benign, likely-benign, not specified, Deficiency of guanidinoacetate methyltransferase, Mitochondrial complex I deficiency, Leigh syndrome 1,395,501(+) C/A/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs121434479 pathogenic, Leigh syndrome due to mitochondrial complex I deficiency 1,391,144(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs140236960 benign, uncertain-significance, not specified, Mitochondrial complex I deficiency, Leigh syndrome 1,388,863(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

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

Disorder Aliases PubMed IDs
leigh syndrome
  • ls
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
chilblain lupus 1
  • chbl1
leber hereditary optic neuropathy
  • leber optic atrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS7_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10360771}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269 PubMed:10330338}. 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 22 58
  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 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. (PMID: 18435906) Koopman WJ … Willems PH (Biochimica et biophysica acta 2008) 3 22 58
  5. 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 44 58

Products for NDUFS7 Gene

Sources for NDUFS7 Gene

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