TOP3A Gene (Protein Coding)

DNA Topoisomerase III Alpha

GC17M018271
GIFtS:
42
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which f... See more...

Aliases for TOP3A Gene

Aliases for TOP3A Gene

  • DNA Topoisomerase III Alpha 2 3 4 5
  • Zinc Finger, GRF-Type Containing 7 2 3
  • Topoisomerase (DNA) III Alpha 2 3
  • DNA Topoisomerase 3-Alpha 3 4
  • ZGRF7 2 3
  • TOP3 3 4
  • Topo III-Alpha 3
  • EC 5.6.2.1 4
  • MGRISCE2 3
  • PEOB5 3
  • TOP3A 5

External Ids for TOP3A Gene

Previous HGNC Symbols for TOP3A Gene

  • TOP3

Previous GeneCards Identifiers for TOP3A Gene

  • GC17M018422
  • GC17M019769
  • GC17M018117
  • GC17M018377
  • GC17M017930
  • GC17M018175

Summaries for TOP3A Gene

Entrez Gene Summary for TOP3A Gene

  • This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

GeneCards Summary for TOP3A Gene

TOP3A (DNA Topoisomerase III Alpha) is a Protein Coding gene. Diseases associated with TOP3A include Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 and Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA topoisomerase activity. An important paralog of this gene is TOP3B.

UniProtKB/Swiss-Prot Summary for TOP3A Gene

  • Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity (PubMed:30057030). It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 (PubMed:29290614).

Gene Wiki entry for TOP3A Gene

Additional gene information for TOP3A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOP3A Gene

Genomics for TOP3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TOP3A 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 TOP3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOP3A

Top Transcription factor binding sites by QIAGEN in the TOP3A gene promoter:
  • AREB6
  • Elk-1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • STAT1
  • STAT1alpha
  • STAT1beta
  • YY1

Genomic Locations for TOP3A Gene

Genomic Locations for TOP3A Gene
chr17:18,269,958-18,315,007
(GRCh38/hg38)
Size:
45,050 bases
Orientation:
Minus strand
chr17:18,174,742-18,218,321
(GRCh37/hg19)
Size:
43,580 bases
Orientation:
Minus strand

Genomic View for TOP3A Gene

Genes around TOP3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOP3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOP3A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TOP3A Gene

Proteins for TOP3A Gene

Products:

  1. Antibody
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  3. Assay

  • Protein details for TOP3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13472-TOP3A_HUMAN
    Recommended name:
    DNA topoisomerase 3-alpha
    Protein Accession:
    Q13472
    Secondary Accessions:
    • A8KA61
    • B4DK80
    • D3DXC7
    • Q13473

    Protein attributes for TOP3A Gene

    Size:
    1001 amino acids
    Molecular mass:
    112372 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Binds ssDNA (PubMed:29290614). Interacts (via N-terminal region) with BLM; the interaction is direct. Directly interacts with RMI1. Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.

    Three dimensional structures from OCA and Proteopedia for TOP3A Gene

    Alternative splice isoforms for TOP3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOP3A Gene

Protein Expression for TOP3A Gene

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

Post-translational modifications for TOP3A Gene

  • Ubiquitination at Lys257 and Lys557
  • Modification sites at PhosphoSitePlus

Other Protein References for TOP3A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TOP3A Gene

Domains & Families for TOP3A Gene

Gene Families for TOP3A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for TOP3A Gene

InterPro:
Blocks:
  • C2HC-type zinc-finger signature
  • GRF zinc finger
  • DNA topoisomerase I
  • Toprim sub-domain
ProtoNet:

Suggested Antigen Peptide Sequences for TOP3A Gene

GenScript: Design optimal peptide antigens:
  • DNA topoisomerase (B4DK80_HUMAN)
  • cDNA FLJ56242, highly similar to DNA topoisomerase 3-alpha (EC 5.99.1.2) (B4DSJ0_HUMAN)
  • DNA topoisomerase III alpha (TOP3A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13472

UniProtKB/Swiss-Prot:

TOP3A_HUMAN :
  • Belongs to the type IA topoisomerase family.
Family:
  • Belongs to the type IA topoisomerase family.
genes like me logo Genes that share domains with TOP3A: view

Function for TOP3A Gene

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for TOP3A Gene

UniProtKB/Swiss-Prot Function:
Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity (PubMed:30057030). It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 (PubMed:29290614).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.; EC=5.6.2.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10131, ECO:0000269|PubMed:20445207, ECO:0000269|PubMed:8622991};.
GENATLAS Biochemistry:
DNA topoisomerase III,putatively involved in suppression of mitotic recombination between repetitive sequences,deleted in SMCR

Enzyme Numbers (IUBMB) for TOP3A Gene

Phenotypes From GWAS Catalog for TOP3A Gene

Gene Ontology (GO) - Molecular Function for TOP3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 8622991
GO:0003697 single-stranded DNA binding IDA 29290614
GO:0003916 DNA topoisomerase activity IBA 21873635
GO:0003917 DNA topoisomerase type I activity IDA 20445207
genes like me logo Genes that share ontologies with TOP3A: view
genes like me logo Genes that share phenotypes with TOP3A: view

Human Phenotype Ontology for TOP3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TOP3A Gene

MGI Knock Outs for TOP3A:
  • Top3a Top3a<tm1Jcw>
  • Top3a Top3a<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOP3A

No data available for Transcription Factor Targets and HOMER Transcription for TOP3A Gene

Localization for TOP3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOP3A Gene

Mitochondrion matrix.

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 TOP3A gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TOP3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with TOP3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TOP3A Gene

Pathways & Interactions for TOP3A Gene

genes like me logo Genes that share pathways with TOP3A: view

Pathways by source for TOP3A Gene

2 KEGG pathways for TOP3A Gene

Gene Ontology (GO) - Biological Process for TOP3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS --
GO:0006265 DNA topological change IBA,IDA 20445207
GO:0032042 mitochondrial DNA metabolic process IMP 29290614
GO:0051304 chromosome separation IMP 30057030
GO:0051321 meiotic cell cycle TAS 8622991
genes like me logo Genes that share ontologies with TOP3A: view

No data available for SIGNOR curated interactions for TOP3A Gene

Drugs & Compounds for TOP3A Gene

Products:

  1. Drug

(1) Drugs for TOP3A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TOP3A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TOP3A: view

Transcripts for TOP3A Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TOP3A Gene

2 REFSEQ mRNAs :
12 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 TOP3A

Alternative Splicing Database (ASD) splice patterns (SP) for TOP3A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: -
SP8:
SP9: - -
SP10:
SP11:

ExUns: 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TOP3A Gene

GeneLoc Exon Structure for
TOP3A

Expression for TOP3A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOP3A Gene

mRNA expression in normal human tissues for TOP3A Gene
mRNA expression by GTEx for TOP3A GenemRNA expression by BioGPS for TOP3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TOP3A Gene

This gene is overexpressed in Retina (57.3) and Testis (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOP3A Gene



Protein tissue co-expression partners for TOP3A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOP3A

SOURCE GeneReport for Unigene cluster for TOP3A Gene:

Hs.592115

mRNA Expression by UniProt/SwissProt for TOP3A Gene:

Q13472-TOP3A_HUMAN
Tissue specificity: High expression is found in testis, heart, skeletal muscle and pancreas.

Evidence on tissue expression from TISSUES for TOP3A Gene

  • Nervous system(5)
  • Skin(3.8)
  • Lung(2.8)
  • Blood(2.7)
  • Intestine(2.6)
  • Liver(2.5)
  • Kidney(2.4)
  • Heart(2.4)
  • Muscle(2.3)
  • Eye(2.3)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Bone marrow(2.2)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with TOP3A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOP3A Gene

Orthologs for TOP3A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TOP3A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TOP3A 30 31
  • 99.3 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TOP3A 30 31
  • 87.86 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Top3a 30 17 31
  • 85.18 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Top3a 30
  • 83.26 (n)
Cow
(Bos Taurus)
 Mammalia TOP3A 30 31
  • 82.93 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TOP3A 31
  • 79 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TOP3A 31
  • 79 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TOP3A 30 31
  • 71.1 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TOP3A 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia top3a 30
  • 71.61 (n)
Str.19892 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8942 30
Zebrafish
(Danio rerio)
 Actinopterygii top3a 30 31
  • 64.78 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Top3alpha 30 31 32
  • 56.23 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010028 30
  • 53.15 (n)
Worm
(Caenorhabditis elegans)
 Secernentea top-3 30 31 32
  • 53.79 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TOP3 31
  • 40 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons TOP3A 30
  • 51.86 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0165000 30
  • 51.87 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 53 (a)
 OneToOne
Species where no ortholog for TOP3A 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)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TOP3A Gene

ENSEMBL:
Gene Tree for TOP3A (if available)
TreeFam:
Gene Tree for TOP3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TOP3A: view image

Paralogs for TOP3A Gene

Paralogs for TOP3A Gene

(1) SIMAP similar genes for TOP3A Gene using alignment to 11 proteins:

  • TOP3A_HUMAN
  • B4DK80_HUMAN
  • B4DSJ0_HUMAN
  • J3KRR9_HUMAN
  • J3KS96_HUMAN
  • J3QR18_HUMAN
  • J3QS25_HUMAN
  • K7EJ41_HUMAN
  • K7EL07_HUMAN
  • K7ELI7_HUMAN
  • K7EMT6_HUMAN
genes like me logo Genes that share paralogs with TOP3A: view

Variants for TOP3A Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOP3A Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
636247 Likely Pathogenic: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 18,301,899(-) GAT/G FRAMESHIFT_VARIANT
636248 Uncertain Significance: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 18,285,296(-) T/C MISSENSE_VARIANT
710478 Likely Benign: not provided 18,302,619(-) C/T MISSENSE_VARIANT
717059 Benign: not provided 18,278,185(-) T/C MISSENSE_VARIANT
777025 Benign: not provided 18,290,928(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TOP3A Gene

Structural Variations from Database of Genomic Variants (DGV) for TOP3A Gene

Variant ID Type Subtype PubMed ID
esv1743367 CNV insertion 17803354
esv2657654 CNV deletion 23128226
esv3554219 CNV deletion 23714750
esv3640144 CNV loss 21293372
esv3640146 CNV gain 21293372
nsv1116191 CNV deletion 24896259
nsv1134605 CNV deletion 24896259
nsv155 OTHER inversion 15895083
nsv428333 CNV gain 18775914
nsv499114 OTHER inversion 21111241
nsv833386 CNV gain 17160897
nsv833387 CNV loss 17160897
nsv962274 CNV duplication 23825009

Variation tolerance for TOP3A Gene

Residual Variation Intolerance Score: 16.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.54; 77.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOP3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOP3A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOP3A Gene

Disorders for TOP3A Gene

MalaCards: The human disease database

(16) MalaCards diseases for TOP3A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TOP3A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TOP3A_HUMAN
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2 (MGRISCE2) [MIM:618097]: An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. {ECO:0000269 PubMed:30057030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (PEOB5) [MIM:618098]: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements. {ECO:0000269 PubMed:29290614}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TOP3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TOP3A: view

No data available for Genatlas for TOP3A Gene

Publications for TOP3A Gene

  1. Human TOP3: a single-copy gene encoding DNA topoisomerase III. (PMID: 8622991) Hanai R … Wang JC (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 23
  2. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. (PMID: 30057030) Martin CA … Jackson AP (American journal of human genetics 2018) 3 4
  3. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. (PMID: 29290614) Nicholls TJ … Gustafsson CM (Molecular cell 2018) 3 4
  4. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (PMID: 23509288) Wan L … Huang J (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
  5. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PMID: 20843780) Wang W … Scharfe C (Nucleic acids research 2011) 3 4

ExternalLinks

View latest publications for TOP3A gene in Mastermind

Products for TOP3A Gene

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