POLG
is a | gene |
is | mentioned by |
Full name | polymerase (DNA directed), gamma |
EntrezGene | 5428 |
PheGenI | 5428 |
VariationViewer | 5428 |
ClinVar | POLG |
GeneCards | POLG |
dbSNP | 5428 |
Diseases | POLG |
SADR | 5428 |
HugeNav | 5428 |
wikipedia | POLG |
POLG | |
gopubmed | POLG |
EVS | POLG |
HEFalMp | POLG |
MyGene2 | POLG |
23andMe | POLG |
UniProt | P54098 |
Ensembl | ENSG00000140521 |
OMIM | 174763 |
# SNPs | 109 |
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:
- rs113994095, A467T
- rs113994097, W748S
- rs113994098, G848S
There are at least 50 more POLG mutations annotated as pathogenic in ClinVar; ones discussed in the GeneReviews beyond the most common three are:
- rs113994093, R232H
- rs113994094, T251I
- rs113994096, P587L
- rs113994099, Y955C
- rs113994100, M1163R
- rs113994101, G1211R*fs