NP_001157284.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
twinkle protein, mitochondrial isoform B
NCBI Official Synonym Full Names
twinkle mtDNA helicase
NCBI Official Synonym Symbols
PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2 [Similar Products]
NCBI Protein Information
twinkle protein, mitochondrial
UniProt Protein Name
Twinkle protein, mitochondrial
UniProt Synonym Protein Names
Progressive external ophthalmoplegia 1 protein; T7 gp4-like protein with intramitochondrial nucleoid localization; T7-like mitochondrial DNA helicase; Twinkle mtDNA helicase
NCBI Summary for C10orf2
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
UniProt Comments for C10orf2
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.
Research Articles on C10orf2
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Products associated with anti-C10orf2 antibody
Pathways associated with anti-C10orf2 antibody
Diseases associated with anti-C10orf2 antibody
Disease Name |
Pubmed Publications |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 Antibodies |
>9 publications with C10orf2 and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 |
Nervous System Malformations Antibodies |
>3 publications with C10orf2 and Nervous System Malformations |
Aneuploidy Antibodies |
>1 publications with C10orf2 and Aneuploidy |
Infertility, Female Antibodies |
>1 publications with C10orf2 and Infertility, Female |
Infertility, Male Antibodies |
>1 publications with C10orf2 and Infertility, Male |
Kidney Diseases Antibodies |
>1 publications with C10orf2 and Kidney Diseases |
Inflammation Antibodies |
>1 publications with C10orf2 and Inflammation |
Necrosis Antibodies |
>1 publications with C10orf2 and Necrosis |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Antibodies |
>1 publications with C10orf2 and Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
Organs/Tissues associated with anti-C10orf2 antibody
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