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FLASH GENE

Symbol

POLG

contributors: mct/npt - updated : 01- 02-202

HGNC name	polymerase (DNA directed), gamma
HGNC id	9179

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PEO1 , AMS1 , PNDC , SANDO , MNGIE2 , OLEN

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       in substantia nigra of Parkinson disease, with respiratory deficiency constitutional     --low   co- deficient expression of POLG and SSBP1 genes could contribute to the development of mtDNA deletion

Susceptibility

to male infertility to deletion of mitochondrial DNA to testicular germ-cell can

Variant & Polymorphism SNP , repeat , other	common A467T associated to reduced polymerase activity and loss of accessory subunit interaction are responsible for the depletion and deletion of mitochondrial DNA
	association of the polymorphism of the CAG repeat with testicular germ-cell cancer (Blomberg 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice expressing proofreading-deficient version of the mitochondrial POLG accumulate mtDNA mutations and display features of accelerated aging
	in mice a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with haematopoietic dysfunction including anaemia