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Aliases for POLG Gene

Aliases for POLG Gene

  • DNA Polymerase Gamma, Catalytic Subunit 2 3 5
  • Mitochondrial DNA Polymerase Catalytic Subunit 3 4
  • Polymerase (DNA) Gamma, Catalytic Subunit 2 3
  • Polymerase (DNA Directed), Gamma 2 3
  • PolG-Alpha 3 4
  • POLG1 3 4
  • POLGA 3 4
  • MDP1 3 4
  • Truncated Mitochondrial DNA Polymerase Gamma Catalytic Subunit 3
  • DNA Polymerase Subunit Gamma-1 3
  • EC 2.7.7.7 4
  • MTDPS4A 3
  • MTDPS4B 3
  • MIRAS 3
  • SANDO 3
  • SCAE 3
  • PEO 3

External Ids for POLG Gene

Previous GeneCards Identifiers for POLG Gene

  • GC15M086198
  • GC15M083225
  • GC15M087446
  • GC15M087589
  • GC15M087559
  • GC15M087660
  • GC15M089859
  • GC15M065971

Summaries for POLG Gene

Entrez Gene Summary for POLG Gene

  • Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for POLG Gene

POLG (DNA Polymerase Gamma, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLG include Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis and Mitochondrial Dna Depletion Syndrome 4A. Among its related pathways are Cell Cycle Control of Chromosomal Replication and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protease binding.

UniProtKB/Swiss-Prot for POLG Gene

  • Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.

Gene Wiki entry for POLG Gene

Additional gene information for POLG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLG Gene

Genomics for POLG Gene

GeneHancer (GH) Regulatory Elements for POLG Gene

Promoters and enhancers for POLG 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
GH15J089332 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 734.5 +0.1 146 3.5 CLOCK DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC POLG TRR-TCG1-1 GC15P089341 LOC100631255 FANCI ENSG00000173867 MIR6766
GH15J089892 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 65.6 -559.0 -559046 2.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 AP3S2 POLG ENSG00000259314 LOC100631255 FANCI ENSG00000259212 KIF7 ARPIN RPL36AP43 WDR93
GH15J089243 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 49.9 +90.6 90599 2.3 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 FANCI POLG LOC100631255 GC15M089327 PIR61045
GH15J089574 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 51.1 -241.6 -241571 3.7 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 POLR2B TICRR POLG LOC100631255 FANCI KIF7 GC15M089580 ENSG00000259713
GH15J089749 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 33.8 -416.3 -416294 2.6 HDGF PKNOX1 CLOCK ATF1 ARID4B NEUROD1 SIN3A ZBTB7B ZNF48 POLR2B MESP1 MRPL15P1 POLG LOC100631255 ENSG00000259314 HMGB1P8 WDR93 PEX11A FANCI GC15M089695
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLG gene promoter:
  • HTF
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for POLG Gene

Genomic Locations for POLG Gene
chr15:89,305,198-89,334,861
(GRCh38/hg38)
Size:
29,664 bases
Orientation:
Minus strand
chr15:89,859,534-89,878,092
(GRCh37/hg19)
Size:
18,559 bases
Orientation:
Minus strand

Genomic View for POLG Gene

Genes around POLG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for POLG Gene

Proteins for POLG Gene

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

    Protein Symbol:
    P54098-DPOG1_HUMAN
    Recommended name:
    DNA polymerase subunit gamma-1
    Protein Accession:
    P54098
    Secondary Accessions:
    • Q8NFM2
    • Q92515

    Protein attributes for POLG Gene

    Size:
    1239 amino acids
    Molecular mass:
    139562 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.

    Three dimensional structures from OCA and Proteopedia for POLG Gene

neXtProt entry for POLG Gene

Post-translational modifications for POLG Gene

  • Ubiquitination at Lys1228, posLast=11981198, Lys1060, Lys1040, Lys981, Lys947, posLast=934934, posLast=796796, Lys768, posLast=755755, posLast=633633, Lys601, posLast=379379, and posLast=371371
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POLG Gene

Domains & Families for POLG Gene

Gene Families for POLG Gene

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

Graphical View of Domain Structure for InterPro Entry

P54098

UniProtKB/Swiss-Prot:

DPOG1_HUMAN :
  • Belongs to the DNA polymerase type-A family.
Family:
  • Belongs to the DNA polymerase type-A family.
genes like me logo Genes that share domains with POLG: view

Function for POLG Gene

Molecular function for POLG Gene

UniProtKB/Swiss-Prot Function:
Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
GENATLAS Biochemistry:
polymerase,(DNA directed) gamma,139.5kDa mitochondrial,with a (CAG)n repeat in the first exon,not altered in disorders with mitochondrial genome instability

Enzyme Numbers (IUBMB) for POLG Gene

Phenotypes From GWAS Catalog for POLG Gene

Gene Ontology (GO) - Molecular Function for POLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 14739292
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 18063578
GO:0003887 DNA-directed DNA polymerase activity IEA,IDA 15164064
genes like me logo Genes that share ontologies with POLG: view
genes like me logo Genes that share phenotypes with POLG: view

Human Phenotype Ontology for POLG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POLG Gene

MGI Knock Outs for POLG:
  • Polg Polg<tm1.2Lrsn>

Animal Model Products

Clone Products

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

Localization for POLG Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLG Gene

Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.

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 POLG gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for POLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 8884268
GO:0005760 gamma DNA polymerase complex IEA --
GO:0032991 protein-containing complex IDA 25378300
GO:0042645 mitochondrial nucleoid IEA,IDA 18063578
GO:0043195 terminal bouton IEA --
genes like me logo Genes that share ontologies with POLG: view

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

Pathways & Interactions for POLG Gene

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

Pathways by source for POLG Gene

1 BioSystems pathway for POLG Gene
1 KEGG pathway for POLG Gene
1 Cell Signaling Technology pathway for POLG Gene

Gene Ontology (GO) - Biological Process for POLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process TAS 8884268
GO:0006260 DNA replication IEA --
GO:0006261 DNA-dependent DNA replication TAS 3619920
GO:0006264 mitochondrial DNA replication IBA --
GO:0006287 base-excision repair, gap-filling IDA 15177179
genes like me logo Genes that share ontologies with POLG: view

No data available for SIGNOR curated interactions for POLG Gene

Drugs & Compounds for POLG Gene

(23) Drugs for POLG Gene - From: PharmGKB, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 161
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
dctp Experimental Pharma 0

(17) Additional Compounds for POLG Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • Deoxy-TTP
  • Deoxythymidine 5'-triphosphate
  • Deoxythymidine triphosphate
365-08-2

(2) ApexBio Compounds for POLG Gene

Compound Action Cas Number
Clofarabine Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 123318-82-1
Vitamin D2 (Ergocalciferol) DNA Polymerase inhibitor 50-14-6
genes like me logo Genes that share compounds with POLG: view

Drug Products

Transcripts for POLG Gene

mRNA/cDNA for POLG Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(196) Selected AceView cDNA sequences:
(24) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POLG Gene

Polymerase (DNA directed), gamma:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ·
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - -
SP18:
SP19:
SP20:
SP21: -
SP22:

ExUns: 12d ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: - - -
SP12: -
SP13:
SP14: -
SP15:
SP16:
SP17: -
SP18:
SP19: - - - - - - -
SP20:
SP21:
SP22:

Relevant External Links for POLG Gene

GeneLoc Exon Structure for
POLG
ECgene alternative splicing isoforms for
POLG

Expression for POLG Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLG Gene

This gene is overexpressed in Brain (26.0) and Lymph node (6.1).

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



Protein tissue co-expression partners for POLG Gene

NURSA nuclear receptor signaling pathways regulating expression of POLG Gene:

POLG

SOURCE GeneReport for Unigene cluster for POLG Gene:

Hs.706868

Evidence on tissue expression from TISSUES for POLG Gene

  • Nervous system(4.7)
  • Muscle(2.7)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • larynx
  • meninges
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • salivary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • shin
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with POLG: view

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

Orthologs for POLG Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLG 34 33
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POLG 34 33
  • 89.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POLG 34 33
  • 88.46 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polg 33
  • 87.55 (n)
mouse
(Mus musculus)
Mammalia Polg 16 34 33
  • 87.21 (n)
oppossum
(Monodelphis domestica)
Mammalia POLG 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLG 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLG 34 33
  • 74.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLG 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488393 33
  • 65.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397851 33
zebrafish
(Danio rerio)
Actinopterygii polg 34 33
  • 67.91 (n)
OneToOne
Dr.19790 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000139 33
  • 56.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta tam 34 35 33
  • 54.73 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.15 35
  • 37 (a)
polg-1 34
  • 32 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR357C 33
  • 50.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIP1 36 34 33
  • 49.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00276 33
  • 52.4 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pog1 33
  • 47.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
Species where no ortholog for POLG was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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 POLG Gene

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

Paralogs for POLG Gene

No data available for Paralogs for POLG Gene

Variants for POLG Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for POLG Gene

DPOG1_HUMAN-P54098
The poly-Gln region seems to be polymorphic.

Sequence variations from dbSNP and Humsavar for POLG Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1003442806 uncertain-significance, Progressive sclerosing poliodystrophy 89,322,875(-) G/A/T coding_sequence_variant, missense_variant
rs1004988362 uncertain-significance, Progressive sclerosing poliodystrophy 89,333,096(-) C/G coding_sequence_variant, missense_variant
rs1009602756 uncertain-significance, POLG-Related Spectrum Disorders, Fanconi anemia 89,316,629(-) C/T 3_prime_UTR_variant
rs1011151684 uncertain-significance, POLG-Related Spectrum Disorders 89,334,667(-) G/A intron_variant
rs1022612492 uncertain-significance, Progressive sclerosing poliodystrophy 89,333,588(-) G/A/C coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv1642918 CNV deletion 17803354
esv23656 CNV loss 19812545
esv2672032 CNV deletion 23128226
esv2676746 CNV deletion 23128226
esv2678873 CNV deletion 23128226
esv2749999 CNV deletion 23290073
esv2750000 CNV deletion 23290073
esv2750001 CNV deletion 23290073
esv3306255 CNV mobile element insertion 20981092
esv3349295 CNV insertion 20981092
esv3552825 CNV deletion 23714750
nsv1038140 CNV gain 25217958
nsv1071234 CNV deletion 25765185
nsv1150259 CNV deletion 26484159
nsv472754 CNV novel sequence insertion 20440878
nsv833086 CNV loss 17160897
nsv957985 CNV deletion 24416366

Variation tolerance for POLG Gene

Residual Variation Intolerance Score: 21.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.74; 66.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLG Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for POLG Gene

MalaCards: The human disease database

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

UniProtKB/Swiss-Prot

DPOG1_HUMAN
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269 PubMed:11897778, ECO:0000269 PubMed:12210792, ECO:0000269 PubMed:15351195, ECO:0000269 PubMed:15534189, ECO:0000269 PubMed:17420318, ECO:0000269 PubMed:17846414, ECO:0000269 PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]: A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms. {ECO:0000269 PubMed:11431686, ECO:0000269 PubMed:12565911, ECO:0000269 PubMed:12707443, ECO:0000269 PubMed:12872260, ECO:0000269 PubMed:12975295, ECO:0000269 PubMed:14635118, ECO:0000269 PubMed:15349879, ECO:0000269 PubMed:15351195, ECO:0000269 PubMed:15477547, ECO:0000269 PubMed:15917273, ECO:0000269 PubMed:16401742, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16634032, ECO:0000269 PubMed:16639411}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. {ECO:0000269 PubMed:12565911, ECO:0000269 PubMed:14745080, ECO:0000269 PubMed:15477547, ECO:0000269 PubMed:15824347, ECO:0000269 PubMed:15917273, ECO:0000269 PubMed:16080118, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16639411, ECO:0000269 PubMed:16919951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]: An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. {ECO:0000269 PubMed:15122711, ECO:0000269 PubMed:15689359, ECO:0000269 PubMed:15929042, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16639411, ECO:0000269 PubMed:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]: An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness. {ECO:0000269 PubMed:12825077, ECO:0000269 PubMed:19307547}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459]: An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases. {ECO:0000269 PubMed:26942291}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POLG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for POLG Gene

Publications for POLG Gene

  1. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (PMID: 17420318) Hudson G … Chinnery PF (Archives of neurology 2007) 3 4 22 44 58
  2. Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. (PMID: 17846414) Luoma PT … Suomalainen A (Neurology 2007) 3 4 22 44 58
  3. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (PMID: 12975295) Filosto M … DiMauro S (Archives of neurology 2003) 3 4 22 44 58
  4. POLG1 polyglutamine tract variants associated with Parkinson's disease. (PMID: 20399836) Eerola J … Tienari PJ (Neuroscience letters 2010) 3 22 44 58
  5. Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. (PMID: 18828154) Taanman JW … Schapira AH (Human mutation 2009) 3 4 22 58

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