3ikl: Difference between revisions
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{{STRUCTURE_3ikl| PDB=3ikl | SCENE= }} | {{STRUCTURE_3ikl| PDB=3ikl | SCENE= }} | ||
===Crystal structure of Pol gB delta-I4.=== | |||
{{ABSTRACT_PUBMED_19837034}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/DPOG2_HUMAN DPOG2_HUMAN]] Defects in POLG2 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:[http://omim.org/entry/610131 610131]]. 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.<ref>PMID:16685652</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DPOG2_HUMAN DPOG2_HUMAN]] Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019837034</ref><references group="xtra"/> | <ref group="xtra">PMID:019837034</ref><references group="xtra"/><references/> | ||
[[Category: DNA-directed DNA polymerase]] | [[Category: DNA-directed DNA polymerase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
