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POLG

From SNPedia

is agene
is mentioned by
Full namepolymerase (DNA directed), gamma
EntrezGene5428
PheGenI5428
VariationViewer5428
ClinVarPOLG
GeneCardsPOLG
dbSNP5428
DiseasesPOLG
SADR5428
HugeNav5428
wikipediaPOLG
googlePOLG
gopubmedPOLG
EVSPOLG
HEFalMpPOLG
MyGene2POLG
23andMePOLG
UniProtP54098
EnsemblENSG00000140521
OMIM174763
# SNPs110
 Max MagnitudeChromosome positionSummary
i5006724
i5006725
i5006729
i5006731
rs1057517803
rs1057517891
rs1057518035
rs1064793493
rs1064794214
rs1064794735
rs1085307741
rs1085307976
rs113994093389,330,241
rs113994094389,330,184
rs113994095789,327,201
rs113994096389,325,639
rs113994097789,323,426
rs113994098789,321,792
rs113994099389,320,883
rs113994100389,317,531
rs113994101389,317,388
rs121918044089,329,055
rs121918045089,333,747
rs121918046089,325,520
rs121918047089,321,242
rs121918048089,320,953
rs121918049089,319,053
rs121918050089,321,743
rs121918051089,320,878
rs121918052089,327,006
rs121918053089,321,777
rs121918054089,323,460
rs121918055089,326,965
rs121918056089,330,257
rs13290997116,551,938
rs138929605089,330,106
rs139562274089,317,389
rs139590686089,321,007
rs139717885
rs141367015089,330,081
rs142347031
rs144500145089,321,780
rs181860632089,319,065
rs199759055089,328,699
rs200309005089,320,832
rs201144044089,318,677
rs201477273089,320,857
rs201732356089,318,737
rs202037973089,323,423
rs202039305089,333,553
... further results

POLG is a gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, called DNA polymerase gamma.Wikipedia

Mutations in the POLG gene are associated with several mitochondrial diseases, including Alpers' disease, ataxia-neuropathy disorders, and dominant and recessive forms of progressive external ophthalmoplegia. A review of POLG-related disorders can be found here.

Two useful resources listing mutations in the POLG coding region and their associated diseases are:


Collectively accounting for the mutations found in 70% of patients with Alpers-Huttenlocher syndrome (AHS) are the following three mutations:


There are at least 50 more POLG mutations annotated as pathogenic in ClinVar; ones discussed in the GeneReviews beyond the most common three are: