POLG

POLG is a gene that provides instructions for making an enzyme called polymerase (DNA directed), gamma. This enzyme plays a crucial role in the maintenance of mitochondria, the energy-producing centers within cells. The POLG gene is located on the long (q) arm of chromosome 15 at position 26.

Function

The POLG enzyme is involved in the replication and repair of mitochondrial DNA. This type of DNA is found in mitochondria and is essential for normal mitochondrial function. The POLG enzyme also helps in the process of mitochondrial DNA replication and mitochondrial DNA repair.

Clinical significance

Mutations in the POLG gene have been associated with a variety of disorders, known collectively as POLG-related disorders. These disorders range in severity and can affect many different parts of the body. The most common conditions caused by POLG mutations include progressive external ophthalmoplegia, Alpers-Huttenlocher syndrome, and childhood myocerebrohepatopathy spectrum.

See also

• Mitochondrial DNA
• Mitochondrial disease
• Polymerase (DNA directed), gamma

External links

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

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