POLG2 gene

DNA polymerase gamma 2, accessory subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

From UniProt:

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4): A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. [MIM:610131]

Cytogenetic Location: 17q, which is the long (q) arm of chromosome 17

Molecular Location: base pairs 64,477,785 to 64,497,066 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q, which is the long (q) arm of chromosome 17
  • HP55
  • MTPOLB
  • PEOA4
  • POLB
  • POLG-BETA
  • POLGB