In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates severa... See more...

Aliases for DGUOK Gene

Aliases for DGUOK Gene

  • Deoxyguanosine Kinase 2 3 5
  • DGK 3 4 4
  • Deoxyguanosine Kinase, Mitochondrial 3 4
  • EC 2.7.1.113 4
  • MTDPS3 3
  • PEOB4 3
  • NCPH 3

External Ids for DGUOK Gene

Previous GeneCards Identifiers for DGUOK Gene

  • GC02P074291
  • GC02P074111
  • GC02P074128
  • GC02P074065
  • GC02P074153
  • GC02P073889

Summaries for DGUOK Gene

Entrez Gene Summary for DGUOK Gene

  • In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DGUOK Gene

DGUOK (Deoxyguanosine Kinase) is a Protein Coding gene. Diseases associated with DGUOK include Mitochondrial Dna Depletion Syndrome 3 and Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4. Among its related pathways are superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include nucleoside kinase activity and deoxyguanosine kinase activity. An important paralog of this gene is DCK.

UniProtKB/Swiss-Prot Summary for DGUOK Gene

  • Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents.

Gene Wiki entry for DGUOK Gene

Additional gene information for DGUOK Gene

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

Genomics for DGUOK Gene

GeneHancer (GH) Regulatory Elements for DGUOK Gene

Promoters and enhancers for DGUOK 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
GH02J073925 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.2 208 3.5 EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 PHF8 DGUOK ACTG2 STAMBP BOLA3-AS1 BOLA3 DGUOK-AS1 RF00001-171
GH02J073926 Enhancer 0.3 ENCODE 500.7 -1.7 -1677 0.2 TRIM24 DGUOK ACTG2 STAMBP BOLA3 BOLA3-AS1 RF00017-3237
GH02J073892 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 -30.2 -30225 9.2 EP300 RBM25 BCL11A TCF12 CBFB SRF MAFK ARNT MEF2B NBN ACTG2 STAMBP DGUOK TET3 BOLA3 BOLA3-AS1 TPRKB HTRA2 MOB1A ALMS1-IT1
GH02J073962 Enhancer 1 Ensembl dbSUPER 11.6 +37.3 37275 1 SIN3A TCF12 ZNF316 MEF2B NBN NFE2 FOSL1 BATF IRF4 TAL1 DGUOK ACTG2 BOLA3 BOLA3-AS1 RF00001-171 DGUOK-AS1
GH02J073877 Promoter/Enhancer 1 Ensembl dbSUPER 11.3 -49.1 -49125 0.6 FOXA2 ZNF524 SPI1 BCOR IRF1 CEBPG ATF4 TBX21 CEBPB KDM1A ENSG00000271536 LOC100420774 lnc-STAMBP-2 STAMBP DGUOK TET3 BOLA3-AS1 BOLA3 piR-48820-052
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DGUOK on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the DGUOK gene promoter:
  • AML1a
  • ATF-2
  • CRE-BP1
  • GR
  • GR-alpha
  • GR-beta
  • LCR-F1
  • Pax-3
  • RORalpha2
  • XBP-1

Genomic Locations for DGUOK Gene

Genomic Locations for DGUOK Gene
chr2:73,926,826-73,958,961
(GRCh38/hg38)
Size:
32,136 bases
Orientation:
Plus strand
chr2:74,153,953-74,186,088
(GRCh37/hg19)
Size:
32,136 bases
Orientation:
Plus strand

Genomic View for DGUOK Gene

Genes around DGUOK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DGUOK Gene

Proteins for DGUOK Gene

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

    Protein Symbol:
    Q16854-DGUOK_HUMAN
    Recommended name:
    Deoxyguanosine kinase, mitochondrial
    Protein Accession:
    Q16854
    Secondary Accessions:
    • P78532
    • Q16759
    • Q4ZG09
    • Q7L1W9
    • Q96BC1

    Protein attributes for DGUOK Gene

    Size:
    277 amino acids
    Molecular mass:
    32056 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DGUOK Gene

    Alternative splice isoforms for DGUOK Gene

neXtProt entry for DGUOK Gene

Post-translational modifications for DGUOK Gene

  • Ubiquitination at Lys129 and Lys275
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DGUOK Gene

Domains & Families for DGUOK Gene

Gene Families for DGUOK Gene

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

Protein Domains for DGUOK Gene

Blocks:
  • Deoxynucleoside kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DGUOK Gene

GenScript: Design optimal peptide antigens:
  • Deoxyguanosine kinase, mitochondrial (DGUOK_HUMAN)
  • Deoxyguanosine kinase (P78533_HUMAN)
  • DGUOK protein (Q9BVK7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16854

UniProtKB/Swiss-Prot:

DGUOK_HUMAN :
  • Belongs to the DCK/DGK family.
Family:
  • Belongs to the DCK/DGK family.
genes like me logo Genes that share domains with DGUOK: view

Function for DGUOK Gene

Molecular function for DGUOK Gene

UniProtKB/Swiss-Prot Function:
Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2'-deoxyguanosine + ATP = ADP + dGMP + H(+); Xref=Rhea:RHEA:19201, ChEBI:CHEBI:15378, ChEBI:CHEBI:17172, ChEBI:CHEBI:30616, ChEBI:CHEBI:57673, ChEBI:CHEBI:456216; EC=2.7.1.113; Evidence=. ;.
GENATLAS Biochemistry:
deoxyguanosine kinase,mitochondrial,related to DCK

Enzyme Numbers (IUBMB) for DGUOK Gene

Phenotypes From GWAS Catalog for DGUOK Gene

Gene Ontology (GO) - Molecular Function for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004138 deoxyguanosine kinase activity TAS,IDA 8706825
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0019136 deoxynucleoside kinase activity IBA 21873635
genes like me logo Genes that share ontologies with DGUOK: view
genes like me logo Genes that share phenotypes with DGUOK: view

Human Phenotype Ontology for DGUOK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DGUOK Gene

miRTarBase miRNAs that target DGUOK

Clone Products

  • Addgene plasmids for DGUOK

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DGUOK Gene

Localization for DGUOK Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGUOK Gene

Mitochondrion.

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 DGUOK gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IBA,TAS 21873635
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with DGUOK: view

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

Pathways & Interactions for DGUOK Gene

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

Pathways by source for DGUOK Gene

1 BioSystems pathway for DGUOK Gene
2 KEGG pathways for DGUOK Gene

Gene Ontology (GO) - Biological Process for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006468 protein phosphorylation IEA --
GO:0008617 guanosine metabolic process TAS 8692979
GO:0009157 deoxyribonucleoside monophosphate biosynthetic process IEA --
GO:0009165 nucleotide biosynthetic process IEA --
genes like me logo Genes that share ontologies with DGUOK: view

No data available for SIGNOR curated interactions for DGUOK Gene

Drugs & Compounds for DGUOK Gene

(16) Drugs for DGUOK Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nelarabine Approved, Investigational Pharma Enzyme, substrate Prodrug of ara-G for T-LBL/T-ALL 0
2'-Deoxyguanosine 5'-monophosphate Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
deoxyguanosine
  • 2-amino-9-(2-Deoxy-9-beta-D-ribofuranosyl)-9H-purin-6-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)-guanine
  • dG
  • Guanine deoxy nucleoside
  • 2-amino-9-(2-Deoxy-9-b-D-ribofuranosyl)-9H-purin-6-ol
961-07-9
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with DGUOK: view

Transcripts for DGUOK Gene

mRNA/cDNA for DGUOK Gene

10 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for DGUOK

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - - - -
SP9: -
SP10: - - - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - - - - - - - -
SP15: - -
SP16: - - -

Relevant External Links for DGUOK Gene

GeneLoc Exon Structure for
DGUOK

Expression for DGUOK Gene

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

Protein differential expression in normal tissues from HIPED for DGUOK Gene

This gene is overexpressed in Heart (18.3).

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



Protein tissue co-expression partners for DGUOK Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for DGUOK Gene:

Hs.469022

mRNA Expression by UniProt/SwissProt for DGUOK Gene:

Q16854-DGUOK_HUMAN
Tissue specificity: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues.

Evidence on tissue expression from TISSUES for DGUOK Gene

  • Nervous system(4.5)
  • Liver(2.3)
  • Muscle(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • salivary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
Abdomen:
  • abdominal wall
  • adrenal gland
  • kidney
  • liver
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with DGUOK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DGUOK Gene

Orthologs for DGUOK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DGUOK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DGUOK 31 30
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DGUOK 31 30
  • 90.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DGUOK 31 30
  • 88.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dguok 30
  • 80.9 (n)
mouse
(Mus musculus)
Mammalia Dguok 17 31 30
  • 80.51 (n)
oppossum
(Monodelphis domestica)
Mammalia DGUOK 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DGUOK 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves DGUOK 31
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DGUOK 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494916 30
  • 62.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19838 30
zebrafish
(Danio rerio)
Actinopterygii dguok 31 31 30
  • 61.42 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10372 30
fruit fly
(Drosophila melanogaster)
Insecta dnk 31
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72040 30
  • 46.88 (n)
rice
(Oryza sativa)
Liliopsida Os01g0874100 30
  • 49.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for DGUOK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DGUOK Gene

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

Paralogs for DGUOK Gene

Paralogs for DGUOK Gene

(2) SIMAP similar genes for DGUOK Gene using alignment to 4 proteins:

  • DGUOK_HUMAN
  • C9JFV8_HUMAN
  • Q7L1W9_HUMAN
  • Q9BVK7_HUMAN
genes like me logo Genes that share paralogs with DGUOK: view

Variants for DGUOK Gene

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
638350 Uncertain Significance: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 73,938,922(+) C/G MISSENSE_VARIANT,INTRON_VARIANT
669482 Benign: not provided 73,939,299(+) T/A INTRON_VARIANT
669484 Benign: not provided 73,957,550(+) T/C INTRON_VARIANT
673686 Likely Benign: not provided 73,950,886(+) G/A INTRON_VARIANT
679277 Benign: not provided 73,938,729(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DGUOK Gene

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

Variant ID Type Subtype PubMed ID
nsv1011177 CNV gain 25217958

Variation tolerance for DGUOK Gene

Residual Variation Intolerance Score: 57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DGUOK Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DGUOK Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

DGUOK_HUMAN
  • Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]: A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion. {ECO:0000269 PubMed:12205643, ECO:0000269 PubMed:15639197}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Portal hypertension, non-cirrhotic (NCPH) [MIM:617068]: An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH patients show normal liver function. {ECO:0000269 PubMed:17073823, ECO:0000269 PubMed:26874653}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment. {ECO:0000269 PubMed:23043144}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DGUOK

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

No data available for Genatlas for DGUOK Gene

Publications for DGUOK Gene

  1. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. (PMID: 17073823) Mousson de Camaret B … Bozon D (The Biochemical journal 2007) 3 4 23 54
  2. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. (PMID: 15639197) Wang L … Eriksson S (Molecular genetics and metabolism 2005) 3 4 23 54
  3. Mitochondrial DNA depletion and dGK gene mutations. (PMID: 12205643) Salviati L … Vu TH (Annals of neurology 2002) 3 4 23 54
  4. Structural basis for substrate specificities of cellular deoxyribonucleoside kinases. (PMID: 11427893) Johansson K … Eklund H (Nature structural biology 2001) 3 4 23 54
  5. Cloning and expression of human deoxyguanosine kinase cDNA. (PMID: 8692979) Johansson M … Karlsson A (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 23 54

Products for DGUOK Gene

  • Signalway ELISA kits for DGUOK
  • Signalway Proteins for DGUOK

Sources for DGUOK Gene