POLG2 Antibody – Rabbit Polyclonal

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]

POLG2: Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA. Defects in POLG2 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4). Progressive external ophthalmoplegia is 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.

Protein type: Transferase; DNA repair, damage; EC 2.7.7.7; Mitochondrial; DNA replication

Chromosomal Location of Human Ortholog: 17q

Cellular Component: mitochondrial matrix

Molecular Function: identical protein binding; protein binding; DNA binding; DNA-directed DNA polymerase activity

Biological Process: mitochondrion organization and biogenesis; organelle organization and biogenesis; mitochondrial DNA replication; DNA replication; DNA repair; DNA-dependent DNA replication

Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4