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 ophthalmoplegi... See more...

Aliases for POLG Gene

Aliases for POLG Gene

  • DNA Polymerase Gamma, Catalytic Subunit 2 3 5
  • POLG1 2 3 4
  • POLGA 2 3 4
  • Mitochondrial DNA Polymerase Catalytic Subunit 3 4
  • Polymerase (DNA) Gamma, Catalytic Subunit 2 3
  • Polymerase (DNA Directed), Gamma 2 3
  • DNA Polymerase Subunit Gamma-1 3 4
  • PolG-Alpha 3 4
  • EC 2.7.7.7 4 51
  • MDP1 3 4
  • Truncated Mitochondrial DNA Polymerase Gamma Catalytic Subunit 3
  • Truncated Mitochondrial Polymerase Gamma Catalytic Subunit 3
  • Mitochondrial Polymerase Gamma Catalytic Subunit 3
  • MTDPS4A 3
  • MTDPS4B 3
  • MIRAS 3
  • SANDO 3
  • SCAE 3
  • POLG 5
  • 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 Chks in Checkpoint Regulation and Cell Cycle Control of Chromosomal Replication. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protease binding.

UniProtKB/Swiss-Prot Summary for POLG Gene

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

Gene Wiki entry for POLG Gene

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

Genomics for POLG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLG 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 POLG on the GeneHancer Hub at the UCSC Golden Path

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

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 (By similarity). Interacts with TTC3 (PubMed:29290964).

    Three dimensional structures from OCA and Proteopedia for POLG Gene

neXtProt entry for POLG Gene

Selected DME Specific Peptides for POLG Gene

P54098:
  • DTMSMHMAISGL
  • SFWRNAHKR
  • AFFSAVD
  • GHNVSFD
  • YKEDPWLWDLEWD
  • HGWGYLVPGR
  • GMLEMGVSYLPVNQNWERYL
  • CLRKEVTM
  • TMDCKTPSNP
  • GTDLHSKTA
  • FAERLLMQFNHRL
  • GTITRRAVE
  • DRYRAALALQITNLLTRCMFA
  • SLQMRVTPKLM
  • CISIHDE
  • GSELKAM
  • EMKKSLM
  • FNYGRIYGAG
  • NVGSPFAKDFLP
  • TPSNPTGME
  • TVGISREHAK
  • GGTESEMFNKLESIA
  • HGCTAFGWMTLQG
  • TSRVNWVVQSSAVDYLHLMLV
  • LANDACQLL

Post-translational modifications for POLG Gene

  • Ubiquitination at Lys371, Lys379, Lys601, Lys633, Lys755, Lys768, Lys796, Lys934, Lys947, Lys981, Lys1040, Lys1060, Lys1198, and Lys1228
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for POLG

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

Protein Domains for POLG Gene

InterPro:
Blocks:
  • DNA-directed DNA polymerase
  • DNA-polymerase gamma (family A) signature
ProtoNet:

Suggested Antigen Peptide Sequences for POLG Gene

GenScript: Design optimal peptide antigens:
  • PolG-alpha (DPOG1_HUMAN)
  • Polymerase (DNA directed), gamma, isoform CRA_a (E5KNU5_HUMAN)
  • Mitochondrial DNA polymerase gamma (Q2V8X9_HUMAN)
  • Mitochondrial DNA polymerase gamma (Q2V8Y0_HUMAN)
  • Mitochondrial DNA polymerase gamma (Q6JLA7_HUMAN)

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:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:11130, Rhea:RHEA-COMP:11131, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:83828; EC=2.7.7.7;.
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:0003677 DNA binding IEA,IDA 10608893
GO:0003682 chromatin binding IDA 18063578
GO:0003887 DNA-directed DNA polymerase activity IEA,IMP 26554610
GO:0005515 protein binding IPI 10608893
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

CRISPR Products

Inhibitory RNA Products

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

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
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IDA --
GO:0005760 gamma DNA polymerase complex IEA,IDA 10608893
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with POLG: view

Pathways & Interactions for POLG Gene

PathCards logo

SuperPathways for POLG Gene

SuperPathway Contained pathways
1 DNA Damage
2 Cell Cycle Control of Chromosomal Replication
-
3 Chks in Checkpoint Regulation
.31
4 Nucleotide Metabolism
genes like me logo Genes that share pathways with POLG: view

Pathways by source for POLG Gene

1 BioSystems pathway for POLG Gene
2 Qiagen pathways for POLG Gene
  • Cell Cycle Control of Chromosomal Replication
  • DNA Repair Mechanisms
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,IDA 10608893
GO:0006264 mitochondrial DNA replication IBA,IMP 26554610
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

(24) 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 377
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 167
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
dctp Experimental Pharma 0

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

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

(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 :
11 NCBI additional mRNA sequence :
30 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 POLG

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

Expression for POLG Gene

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

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

SOURCE GeneReport for Unigene cluster for POLG Gene:

Hs.706868

Evidence on tissue expression from TISSUES for POLG Gene

  • Nervous system(4.8)
  • Muscle(3)
  • Skin(2.9)
  • Blood(2.6)
  • Liver(2.6)
  • Heart(2.5)
  • Intestine(2.4)
  • Kidney(2.3)
  • Thyroid gland(2.2)
  • Eye(2.1)
  • Stomach(2.1)
  • Bone marrow(2.1)
  • Adrenal gland(2)

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 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLG 30 31
  • 89.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLG 30 31
  • 88.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Polg 30
  • 87.55 (n)
Mouse
(Mus musculus)
Mammalia Polg 30 17 31
  • 87.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLG 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POLG 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POLG 30 31
  • 74.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POLG 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488393 30
  • 65.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397851 30
Zebrafish
(Danio rerio)
Actinopterygii polg 30 31
  • 67.91 (n)
OneToOne
Dr.19790 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000139 30
  • 56.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta tam 30 31 32
  • 54.73 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y57A10A.15 32
  • 37 (a)
polg-1 31
  • 32 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR357C 30
  • 50.56 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIP1 30 31 33
  • 49.25 (n)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU00276 30
  • 52.4 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pog1 30
  • 47.43 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLG Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
619327 Uncertain Significance: Progressive sclerosing poliodystrophy 89,321,999(-) ACAC/A INFRAME_DELETION
619415 Uncertain Significance: Progressive sclerosing poliodystrophy 89,323,892(-) GTTC/G INFRAME_DELETION
619491 Benign: Progressive sclerosing poliodystrophy 89,333,596(-) TTGCTGCTGCTGCTGC INFRAME_DELETION
619500 Pathogenic: Progressive sclerosing poliodystrophy 89,323,809(-) GC/CT INTRON_VARIANT
639971 Uncertain Significance: Progressive sclerosing poliodystrophy 89,330,077(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for POLG Gene

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

(100) MalaCards diseases for POLG Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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, ECO:0000269 PubMed:25129007}. 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
Open Targets Platform
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No data available for Genatlas for POLG Gene

Publications for POLG Gene

  1. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (PMID: 18575922) Virgilio R … Comi GP (Journal of neurology 2008) 3 4 23 41
  2. Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. (PMID: 17846414) Luoma PT … Suomalainen A (Neurology 2007) 3 4 23 41
  3. 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 23 41
  4. 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 23 41
  5. POLG1 polyglutamine tract variants associated with Parkinson's disease. (PMID: 20399836) Eerola J … Tienari PJ (Neuroscience letters 2010) 3 23 41

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