rs7223078
This variant is located in the POLG2 gene.
▶ClinVar annotation
not provided; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; Mitochondrial DNA depletion syndrome 16 (hepatic type); Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
View on ClinVar →About POLG2
This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
View all POLG2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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