Protein Name: Twinkle protein, mitochondrial
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UniprotKB/SwissProt ID: PEO1_HUMAN (Q96RR1)
Gene Name: PEO1
Synonyms: C10orf2
Organism: Homo sapiens (Human).
Function: Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.
Other Modifications: View all modification sites in dbPTM
Protein Subcellular Localization: Mitochondrion matrix, mitochondrion nucleoid. Note=Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.
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Protein disease:
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| Disease database |
Database Entry |
Disease information | | HPRD | 05830 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 | | HPRD | 05830 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic | | HPRD | 05830 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
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Graphical Visualization of S-nitrosylation Sites:
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| Overview of Protein S-nitrosylation Sites with Functional and Structural Information |  |
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