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 #
Molecular Weight
60,400 Da
NCBI Official Full Name
twinkle protein, mitochondrial isoform B
NCBI Official Synonym Full Names
chromosome 10 open reading frame 2
NCBI Official Synonym Symbols
PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5 [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
UniProt Synonym Gene Names
UniProt Entry Name
PEO1_HUMAN
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
PEO1: 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. Defects in PEO1 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3). 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. Defects in PEO1 are a cause of sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO). SANDO is a clinically heterogeneous systemic disorder with variable features resulting from mitochondrial dysfunction. It shares phenotypic characteristics with autosomal recessive progressive external ophthalmoplegia and mitochondrial neurogastrointestinal encephalopathy syndrome. The clinical triad of symptoms consists of sensory ataxic, neuropathy, dysarthria, and ophthalmoparesis. Defects in PEO1 are the cause of mitochondrial DNA depletion syndrome type 7 (MTDPS7); also known as spinocerebellar ataxia infantile-onset (IOSCA). A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropath. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. Some individuals manifest a hepatocerebral phenotype characterized by liver insufficiency, increased serum and CSF lactate, hypotonia, psychomotor retardation and peripheral neuropathy. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.6.4.12; DNA replication; Helicase; Mitochondrial
Chromosomal Location of Human Ortholog: 10q24
Cellular Component: mitochondrial matrix
Molecular Function: protease binding; 5'-3' DNA helicase activity; single-stranded DNA binding; ATP binding
Biological Process: DNA unwinding during replication; mitochondrion organization and biogenesis; organelle organization and biogenesis; mitochondrial DNA replication; protein homooligomerization; transcription from mitochondrial promoter
Disease: Perrault Syndrome 5; Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis; Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type); Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3
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 |
Weight Loss Antibodies |
>1 publications with C10orf2 and Weight Loss |
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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