POLG2

POLG2 is a gene that provides instructions for making a protein that is found in cells throughout the body. This protein is a subunit of the enzyme DNA polymerase gamma, which is necessary for the replication and repair of mitochondrial DNA.

Function

The POLG2 gene encodes the accessory subunit of the mitochondrial DNA polymerase gamma. The encoded protein is essential for mitochondrial DNA replication and base excision repair. Mutations in this gene are associated with progressive external ophthalmoplegia with mitochondrial DNA deletions and Parkinson disease.

Clinical significance

Mutations in the POLG2 gene can cause a variety of disorders, collectively known as POLG-related disorders. These conditions often involve muscle weakness and wasting, as well as a variety of other features that can affect many parts of the body. The severity, specific symptoms and features, and the course of these disorders can vary widely.

Genetics

The POLG2 gene is located on the long (q) arm of chromosome 17 at position 23.3. More precisely, the POLG2 gene is located from base pair 50,103,019 to base pair 50,115,832 on chromosome 17.

See also

• POLG
• Mitochondrial DNA
• DNA polymerase gamma

External links

• POLG2 at the Genetics Home Reference
• POLG2 at the National Center for Biotechnology Information