7t8b
From Proteopedia
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== Disease == | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/PEO1_HUMAN PEO1_HUMAN] Mitochondrial DNA depletion syndrome, hepatocerebrorenal form;Infantile-onset spinocerebellar ataxia | + | [https://www.uniprot.org/uniprot/PEO1_HUMAN PEO1_HUMAN] Autosomal dominant progressive external ophthalmoplegia;Perrault syndrome type 1;Perrault syndrome type 2;Mitochondrial DNA depletion syndrome, hepatocerebrorenal form;Infantile-onset spinocerebellar ataxia;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. |
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/PEO1_HUMAN PEO1_HUMAN] Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA repair (PubMed:27226550). Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand (PubMed:27226550). In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities (PubMed:22383523, PubMed:26887820, PubMed:27226550).<ref>PMID:12975372</ref> <ref>PMID:15167897</ref> <ref>PMID:17324440</ref> <ref>PMID:18039713</ref> <ref>PMID:18971204</ref> <ref>PMID:22383523</ref> <ref>PMID:25824949</ref> <ref>PMID:26887820</ref> <ref>PMID:27226550</ref> Lack DNA unwinding and ATP hydrolysis activities (PubMed:18039713). Does not bind single-stranded or double-stranded DNA (PubMed:18039713).<ref>PMID:18039713</ref> | [https://www.uniprot.org/uniprot/PEO1_HUMAN PEO1_HUMAN] Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA repair (PubMed:27226550). Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand (PubMed:27226550). In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities (PubMed:22383523, PubMed:26887820, PubMed:27226550).<ref>PMID:12975372</ref> <ref>PMID:15167897</ref> <ref>PMID:17324440</ref> <ref>PMID:18039713</ref> <ref>PMID:18971204</ref> <ref>PMID:22383523</ref> <ref>PMID:25824949</ref> <ref>PMID:26887820</ref> <ref>PMID:27226550</ref> Lack DNA unwinding and ATP hydrolysis activities (PubMed:18039713). Does not bind single-stranded or double-stranded DNA (PubMed:18039713).<ref>PMID:18039713</ref> | ||
Current revision
Octameric Human Twinkle Helicase Clinical Variant W315L
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