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Aliases for POLG Gene

Aliases for POLG Gene

  • Polymerase (DNA) Gamma, Catalytic Subunit 2 3
  • Polymerase (DNA Directed), Gamma 2 3 5
  • Mitochondrial DNA Polymerase Catalytic Subunit 3 4
  • PolG-Alpha 3 4
  • EC 2.7.7.7 4 63
  • POLG1 3 4
  • POLGA 3 4
  • MDP1 3 4
  • Truncated Mitochondrial DNA Polymerase Gamma Catalytic Subunit 3
  • Mitochondrial DNA Polymerase Gamma Catalytic Subunit 3
  • MTDPS4A 3
  • MTDPS4B 3
  • SANDO 3
  • MIRAS 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 (Polymerase (DNA) 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 Metabolism 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

Promoters for POLG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLG on UCSC Golden Path with GeneCards custom track

Genomic Location for POLG Gene

Chromosome:
15
Start:
89,316,305 bp from pter
End:
89,334,861 bp from pter
Size:
18,557 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

Proteomics data for POLG Gene at MOPED

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for POLG Gene 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:0042645 mitochondrial nucleoid IDA 18063578
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 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:0006260 DNA replication IEA --
GO:0006264 mitochondrial DNA replication IBA --
GO:0006287 base-excision repair, gap-filling IDA 15177179
GO:0055093 response to hyperoxia IEA --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 311
dctp Experimental Pharma 0
dgtp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
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:

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 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, MOPED, and MaxQB for POLG Gene



SOURCE GeneReport for Unigene cluster for POLG Gene Hs.706868

genes like me logo Genes that share expression patterns with POLG: view

Protein tissue co-expression partners for POLG Gene

Primer Products

In Situ Assay 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 35
  • 99.41 (n)
  • 99.35 (a)
POLG 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLG 36
  • 89 (a)
OneToOne
POLG 35
  • 88.46 (n)
  • 88.64 (a)
dog
(Canis familiaris)
Mammalia POLG 35
  • 89.64 (n)
  • 88.64 (a)
POLG 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polg 36
  • 88 (a)
OneToOne
Polg 16
Polg 35
  • 87.21 (n)
  • 88 (a)
oppossum
(Monodelphis domestica)
Mammalia POLG 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLG 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polg 35
  • 87.55 (n)
  • 86.92 (a)
chicken
(Gallus gallus)
Aves POLG 36
  • 74 (a)
OneToOne
POLG 35
  • 74.39 (n)
  • 74.89 (a)
lizard
(Anolis carolinensis)
Reptilia POLG 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397851 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488393 35
  • 65.37 (n)
  • 68.89 (a)
zebrafish
(Danio rerio)
Actinopterygii polg 36
  • 67 (a)
OneToOne
Dr.19790 35
polg 35
  • 67.91 (n)
  • 71.14 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000139 35
  • 56.17 (n)
  • 50.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta tam 37
  • 44 (a)
tam 36
  • 47 (a)
OneToOne
tam 35
  • 54.73 (n)
  • 50.48 (a)
worm
(Caenorhabditis elegans)
Secernentea polg-1 36
  • 32 (a)
OneToOne
Y57A10A.15 37
  • 37 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR357C 35
  • 50.56 (n)
  • 42.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIP1 36
  • 32 (a)
OneToOne
MIP1 38
MIP1 35
  • 49.25 (n)
  • 44.62 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00276 35
  • 52.4 (n)
  • 46.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pog1 35
  • 47.43 (n)
  • 44.41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for POLG:
  • 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

P54098-DPOG1_HUMAN
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
VAR_012153 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1)
VAR_012154 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1)
VAR_012155 Mitochondrial DNA depletion syndrome 4A (MTDPS4A), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1), Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
VAR_012156 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
VAR_014904 -

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

Variant ID Type Subtype PubMed ID
nsv833086 CNV Loss 17160897
esv2749999 CNV Deletion 23290073
esv2750000 CNV Deletion 23290073
esv2678873 CNV Deletion 23128226
esv1642918 CNV Deletion 17803354
esv2672032 CNV Deletion 23128226
esv2676746 CNV Deletion 23128226
esv2750001 CNV Deletion 23290073
esv270532 CNV Insertion 20981092
esv23656 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
POLG
Human Gene Mutation Database (HGMD)
POLG

Disorders for POLG Gene

MalaCards: The human disease database

(54) 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
  • chronic progressive external ophthalmoplegia
mitochondrial recessive ataxia syndrome
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
mitochondrial dna depletion syndrome 4b
  • mtdps4b
progressive external ophthalmoplegia, autosomal dominant 1
  • chronic progressive external ophthalmoplegia
- 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
  • 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. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. {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.

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. 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 23 48 67
  2. Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). (PMID: 9465903) Zullo S.J. … Merril C.R. (Cytogenet. Cell Genet. 1997) 2 3 23
  3. Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. (PMID: 19815814) Hopkins S.E. … Gilbert D.L. (J. Child Neurol. 2010) 3 23
  4. Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. (PMID: 20153822) Palin E.J. … Kaguni L.S. (Biochim. Biophys. Acta 2010) 3 23
  5. POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype. (PMID: 20438629) Komulainen T. … Uusimaa J. (BMC Neurol 2010) 3 23

Products for POLG Gene

Sources for POLG Gene

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