Western Blot (WB)
Rabbit C10orf2 Polyclonal Antibody | anti-C10orf2 antibody
Anti-C10orf2 Antibody
IHC: 1:50- 1:200
IF: 1:50- 1:200
Western Blot (WB)
Western Blot (WB)
Immunofluorescence (IF)
Immunofluorescence (IF)
NCBI and Uniprot Product Information
NCBI Description
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 Description
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: DNA replication; EC 3.6.4.12; Helicase; Mitochondrial
Chromosomal Location of Human Ortholog: 10q24.31
Cellular Component: mitochondrial matrix
Molecular Function: 5'-3' DNA helicase activity; protease binding; single-stranded DNA binding
Biological Process: mitochondrial DNA replication; mitochondrion organization and biogenesis; protein homooligomerization; transcription from mitochondrial promoter
Disease: Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type); Perrault Syndrome 5; Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3; Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Research Articles on C10orf2
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Product Notes
The C10orf2 peo1 (Catalog #AAA4150296) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Anti-C10orf2 Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's C10orf2 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF). WB: 1:500 - 1:2000 IHC: 1:50- 1:200 IF: 1:50- 1:200. Researchers should empirically determine the suitability of the C10orf2 peo1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "C10orf2, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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