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Thymidine kinase 2, mitochondrial

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] (from NCBI)
Top mentioned proteins: CAN, deoxycytidine kinase, HAD, POLYMERASE, AGE
Papers on TK2
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
Thangaraj et al., Hyderābād, India. In Mitochondrion, Jan 2016
Sequencing of other nuclear genes that are associated with CPEO and multiple mtDNA deletions, such as; POLG1, POLG2, TK2, ANT1, DGUOK, MPV17 and RRM2B did not reveal any pathogenic mutation in patients with C10orf2 mutation.
siRNA knockdown of mitochondrial thymidine kinase 2 (TK2) sensitizes human tumor cells to gemcitabine.
Koropatnick et al., London, Canada. In Oncotarget, Oct 2015
Mitochondrial thymidine kinase 2 (TK2) phosphorylates deoxycytidine to generate dCTP.
Heart mitochondrial TTP synthesis and the compartmentalization of TMP.
McKee et al., Mount Pleasant, United States. In J Biol Chem, Feb 2015
The primary pathway of TTP synthesis in the heart requires thymidine salvage by mitochondrial thymidine kinase 2 (TK2).
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.
Schuelke et al., Berlin, Germany. In Mitochondrion, 2015
Whole exome sequencing coupled with 'identity-by-state' (IBS) analysis revealed a compound heterozygous missense mutation (p.M117V, p.A139V) in the thymidine kinase 2 (TK2) gene that segregated with the phenotype.
Selective Phosphorylation of South and North-Cytidine and Adenosine Methanocarba-Nucleosides by Human Nucleoside and Nucleotide Kinases Correlates with Their Growth Inhibitory Effects on Cultured Cells.
Eriksson et al., Uppsala, Sweden. In Nucleosides Nucleotides Nucleic Acids, 2014
locked deoxycytidine (S-MCdC, N-MCdC), and deoxyadenosine analogs (S-MCdA and N-MCdA) were examined as substrates for purified preparations of human deoxynucleoside kinases: dCK, dGK, TK2, TK1, the ribonucleoside kinase UCK2, two NMP kinases (CMPK1, TMPK) and a NDP kinase.
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Wang et al., Uppsala, Sweden. In Biochemistry, 2014
Mitochondrial thymidine kinase 2 (TK2) is a nuclear gene-encoded protein, synthesized in the cytosol and subsequently translocated into the mitochondrial matrix, where it catalyzes the phosphorylation of thymidine (dT) and deoxycytidine (dC).
Mitochondrial depletion syndromes in children and adults.
Ahting et al., Vienna, Austria. In Can J Neurol Sci, 2013
Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, RRM2B, or PEO1/twinkle.
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
Scaglia et al., Riyadh, Saudi Arabia. In Neurotherapeutics, 2013
MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis (TK2, SUCLA2, SUCLG1, RRM2B, DGUOK, and TYMP) or mtDNA replication (POLG and C10orf2).
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
Scaglia et al., Seattle, United States. In Unknown Journal, 2013
CLINICAL CHARACTERISTICS: TK2-related mitochondrial DNA (mtDNA) depletion syndrome is a phenotypic continuum that ranges from severe to mild.
Is the expression of deoxynucleoside kinases and 5'-nucleotidases in animal tissues related to the biological effects of nucleoside analogs?
Eriksson, Uppsala, Sweden. In Curr Med Chem, 2012
In this chapter the expression patterns of the four dNKs i.e.cytosolic deoxycytidine kinase (dCK) and thymidine kinase 1 (TK1) and the mitochondrial thymidine kinase 2 (TK2) and deoxyguanosine kinase (dGK) as well as the six intracellular 5'-NTs: cN-IA, cN-IB, cN-II, cN-III, cdN, mdN, present in animal cells and tissues will be described.
Oxidative stress induced S-glutathionylation and proteolytic degradation of mitochondrial thymidine kinase 2.
Wang et al., Uppsala, Sweden. In J Biol Chem, 2012
Results strongly suggest that oxidative damage-induced S-glutathionylation and degradation of TK2 have significant impact on mitochondrial DNA precursor synthesis.
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Suomalainen et al., Helsinki, Finland. In Hum Mol Genet, 2012
R225W and T230A mutation of TK2 leads to a significant reduction activity in autosomal recessive progressive external ophthalmoplegia patients.
Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.
Vilà et al., Barcelona, Spain. In Biochem Biophys Res Commun, 2011
TK2-deficient cells showed severe mtDNA depletion.
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.
Hirano et al., New York City, United States. In Hum Mol Genet, 2011
The down-regulation of Tk1 activity unmasks Tk2 deficiency in Tk2-/- mice and correlates with the onset of mtDNA depletion in the brain and the heart.
Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in mice.
Villarroya et al., Barcelona, Spain. In Plos One, 2010
analysis of transcripts encoding up to fourteen components of specific adipose tissue functions revealed that, in both TK2-deficient WAT and BAT, there was a consistent reduction of thermogenesis related gene expression and severe reduction in leptin mRNA
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Durr, Paris, France. In Lancet Neurol, 2010
All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2).
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Zeviani et al., Milano, Italy. In Nat Genet, 2006
Known mutant genes, including TK2, SUCLA2, DGUOK and POLG, account for only a fraction of MDDS cases.
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
Cohen et al., Haifa, Israel. In Nat Genet, 2001
The main supply of deoxyribonucleotides (dNTPs) for mtDNA synthesis comes from the salvage pathway initiated by dGK and thymidine kinase-2 (TK2).
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
Elpeleg et al., Jerusalem, Israel. In Nat Genet, 2001
Two of the four human deoxyribonucleoside kinases, deoxyguanosine kinase (dGK) and thymidine kinase-2 (TK2), are expressed in mitochondria.
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