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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
  • EC 2.7.7.7 4 61
  • POLG1 3 4
  • POLGA 3 4
  • MDP1 3 4
  • Truncated Mitochondrial DNA Polymerase Gamma Catalytic Subunit 3
  • DNA Polymerase Subunit Gamma-1 3
  • 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 Mitochondrial Dna Depletion Syndrome 4A and Progressive External Ophthalmoplegia, Autosomal Recessive 1. Among its related pathways are Cell Cycle Control of Chromosomal Replication and Nucleotide Metabolism. 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

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

Genomics for POLG Gene

Regulatory Elements for POLG Gene

Enhancers for POLG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F089332 1.2 ENCODE 50.2 +0.1 146 3.5 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D POLG LOC100631255 ENSG00000173867 DET1 ENSG00000261441 LOC105370962 MIR6766
GH15F090306 1.1 Ensembl ENCODE 33.7 -971.8 -971780 1.3 ZFP64 CREM EGR2 ZNF202 ZNF680 ZBTB11 CBFB CEBPB JUNB REST ENSG00000259314 POLG ENSG00000259212 IQGAP1 RCCD1 LOC100631255 NIFKP5 ENSG00000270322 GABARAPL3 ZNF774
GH15F089180 0.8 ENCODE 44.3 +154.8 154757 0.2 ZFP64 ZNF223 ZNF140 ZNF266 EBF1 ZNF101 RELA ZNF664 RBAK ZNF138 POLG LOC100631255 ENSG00000261478 GC15M089176 PIR48171
GH15F089243 1.1 ENCODE 29.5 +90.7 90670 2.1 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 ZNF263 ENSG00000173867 POLG DET1 RPL36AP43 ARPIN FANCI GC15M089327 PIR61045
GH15F089892 1.2 ENCODE 22.3 -559.0 -559047 2.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 POLG ARPIN LOC100631255 AP3S2 RPL36AP43 ENSG00000259314 ENSG00000228998 NIFKP5 ENSG00000259212 TTLL13P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLG on UCSC Golden Path with GeneCards custom track

Promoters for POLG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001023489 61 2401 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D

Genomic Location for POLG Gene

Chromosome:
15
Start:
89,305,198 bp from pter
End:
89,334,861 bp from pter
Size:
29,664 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

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 Lys 371, Lys 379, Lys 601, Lys 633, Lys 755, Lys 768, Lys 796, Lys 934, Lys 947, Lys 981, Lys 1040, Lys 1060, Lys 1198, and Lys 1228
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for POLG (POLG)

Domains & Families for POLG Gene

Gene Families for POLG Gene

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.

Enzyme Numbers (IUBMB) 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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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:0042645 mitochondrial nucleoid IDA 18063578
GO:0043195 terminal bouton IEA --
GO:0043234 protein complex IDA 25378300
genes like me logo Genes that share ontologies with POLG: view

Pathways & Interactions for POLG Gene

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

Pathways by source for POLG Gene

1 Cell Signaling Technology pathway for POLG Gene
1 BioSystems pathway for POLG Gene
1 KEGG 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 322
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 157
Phosphoric acid Approved Pharma 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
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

Transcripts for POLG Gene

Unigene Clusters for POLG Gene

Polymerase (DNA directed), gamma:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with POLG: view

Primer Products

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 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia POLG 34 35
  • 89.64 (n)
cow
(Bos Taurus)
Mammalia POLG 34 35
  • 88.46 (n)
rat
(Rattus norvegicus)
Mammalia Polg 34
  • 87.55 (n)
mouse
(Mus musculus)
Mammalia Polg 34 16 35
  • 87.21 (n)
oppossum
(Monodelphis domestica)
Mammalia POLG 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLG 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLG 34 35
  • 74.39 (n)
lizard
(Anolis carolinensis)
Reptilia POLG 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488393 34
  • 65.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397851 34
zebrafish
(Danio rerio)
Actinopterygii polg 34 35
  • 67.91 (n)
Dr.19790 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000139 34
  • 56.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta tam 36 34 35
  • 54.73 (n)
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.15 36
  • 37 (a)
polg-1 35
  • 32 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR357C 34
  • 50.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIP1 34 35 37
  • 49.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00276 34
  • 52.4 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pog1 34
  • 47.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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 Sequence Context AA Info Type
rs113994093 Leigh syndrome (LS) [MIM:256000], Pathogenic 89,330,241(-) AGAGC(A/G)TTACT reference, missense
rs113994094 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700], Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662], Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450], Pathogenic 89,330,184(-) CCCTA(C/T)TGGTG reference, missense
rs113994095 Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459], Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459], Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450], Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700], Pathogenic 89,327,201(-) ATCTG(A/G)CCAAT upstream-variant-2KB, reference, missense
rs113994096 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450], Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662], Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700], Pathogenic 89,325,639(-) GACCC(C/T)GGGCC reference, missense
rs113994097 Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459], Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459], Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700], Pathogenic 89,323,426(-) CTGCT(C/G)GTTTT reference, missense

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

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

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)

Relevant External Links for POLG Gene

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

Disorders for POLG Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 4a
  • diffuse cerebral sclerosis of schilder
progressive external ophthalmoplegia, autosomal recessive 1
  • kearns-sayre syndrome
mitochondrial recessive ataxia syndrome
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
mitochondrial dna depletion syndrome 4b
  • mitochondrial dna depletion syndrome 4b mngie type
progressive external ophthalmoplegia, autosomal dominant 1
  • progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
- elite association - COSMIC cancer census association via MalaCards
Search POLG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPOG1_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:18828154}. 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.
  • 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:12210792, ECO:0000269 PubMed:15351195, ECO:0000269 PubMed:15534189, ECO:0000269 PubMed:17420318, 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.
  • 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.

Relevant External Links for POLG

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

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 P.F. (Arch. Neurol. 2007) 3 4 22 46 64
  2. Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. (PMID: 17846414) Luoma P.T. … Suomalainen A. (Neurology 2007) 3 4 22 46 64
  3. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (PMID: 12975295) Filosto M. … DiMauro S. (Arch. Neurol. 2003) 3 4 22 46 64
  4. POLG1 polyglutamine tract variants associated with Parkinson's disease. (PMID: 20399836) Eerola J. … Tienari P.J. (Neurosci. Lett. 2010) 3 22 46 64
  5. Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study. (PMID: 19275594) Chiappini F. … Lemoine A. (Curr. HIV Res. 2009) 3 22 46 64

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