Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals. This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing resu ...more
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
check_circle Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
check_circle Active Drug: 0
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Description of the protein which includes the UniProt Function and the NCBI Gene Summary.
Uniprot linked accession values, symbols or commonly used abbreviations associated with this particular target.
Approved gene symbol with link to HUGO Gene Nomenclature Committee.
Ensembl identifier links.
List of abbreviations or acronyms of the full target name.
Radar plot depicting the variety of knowledge obtained by Pharos for a particular target. The more spikes in the plot, the more variety. The longer the length, the higher the quantity of that particular knowledge. Clicking the illumination graph opens an expanded view to explore the plot fuller by seeing plot with annotations of the different radii.
Table representing the top 5 knowledge attributes in the illumination graph. The knowledge value property is on a scale of 0 to 1.
Gene symbols, accession ids and various other target identifiers. Also contains the illumination graph which highlights the amount of knowledge available. Click the '?' button for more information
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Hierarchical classifications for this protein from different ontologies.
Classes for this protein according to Protein ANalysis THrough Evolutionary Relationships (PANTHER) Classification System.
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Classes for this protein according to by Drug Target Ontology (DTO).
Explore targets in this DTO class
Descriptions of the IDG illumination levels, highlighting the milestones attained in research for this target.
Jensen Lab generated fractional counting score for the prevalence of this gene in Pubmed articles.
Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target.
Number of antibodies for this target listed in antibodypedia.com
Number of Gene Ontology (GO) annotations for this target, consisting of the sum of GO Functions and GO Processes.
Ligands associated with a target, listed in ChEMBL, with activity over a cutoff relative to the targetclass.