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TK2

From SNPedia
is agene
is mentioned by
ClinVarTK2
GeneCardsTK2
DiseasesTK2
wikipediaTK2
googleTK2
gopubmedTK2
EVSTK2
HEFalMpTK2
MyGene2TK2
23andMeTK2
# SNPs36
 Max MagnitudeChromosome positionSummary
rs137854429566,531,394
rs137854430566,513,795
rs137854431566,531,432
rs137854432566,541,951
rs137886900566,517,207
rs138439950566,541,937
rs138479499066,529,028
rs142291440566,536,971
rs281865486566,549,001
rs281865487566,541,919
rs281865488566,541,912
rs281865489566,536,981
rs281865490566,531,421
rs281865491566,531,382
rs281865492566,529,054
rs281865493566,529,055
rs281865494566,529,027
rs281865495566,517,192
rs281865496566,517,179
rs281865497566,513,786
rs281865498566,512,006
rs281865499566,548,976
rs281865500566,549,002
rs281865501566,517,148
rs281865502566,550,053
rs281865503566,548,991
rs281865504566,548,983
rs281865505566,541,890
rs281865506566,531,418
rs281865507566,531,394
rs374777494066,517,858
rs747276038066,541,929
rs863224235566,529,020
rs886039669566,531,382
rs886041321066,549,959
rs886041794066,517,171


The TK2 gene is located on chromosome 16 and encodes thymidine kinase 2, a protein that localizes to the mitochondria.

Mutations in the TK2 gene have been linked to two conditions: progressive external ophthalmoplegia and TK2-related mitochondrial depletion syndrome (myopathic form). Both are inherited recessively.