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FLASH GENE

Symbol

TK2

contributors: mct/pgu - updated : 10-07-2012

HGNC name	thymidine kinase 2, mitochondrial
HGNC id	11831

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MDDS2

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   results in neuronal dysfunction constitutional     --low   impairment of TK2 expression leads to profound mtDNA depletion but fully preserved or even enhanced mitochondrial respiratory activity

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	after 10
	-12 days of life the TK2-/- mice display an ataxic phenotype with severely impaired motor coordination and gait, and abnormal limb-clasping reflexes
	altered mitochondrial morphology in brown but not in white adipocytes from TK2-deficient mice
	MtDNA levels in spleen from the Tk2-deficient mice were decreased 50p100, but in contrast to all other investigated organs, both thymus and peripheral blood leukocytes showed normal mtDNA levels