其他名称： POLG2; MTPOLB; DNA polymerase subunit gamma-2; mitochondrial; DNA polymerase gamma accessory 55 kDa subunit; p55; Mitochondrial DNA polymerase accessory subunit; MtPolB; PolG-beta
分子量： 55kD
功能： catalytic activity:Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).,disease:Defects in POLG2 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]. 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.,function:Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.,subunit:Heterotrimer composed of a catalytic subunit and an homodimer of accessory subunits.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion.
组织表达： Cerebellum,Cervix,Ovary,
科研货号： PLA015670
DNA pol γ2 Polyclonal Antibody
Catalog NoPLA015670
Product information
基因名称： POLG2
蛋白名称： DNA polymerase subunit gamma-2 mitochondrial
其他名称： POLG2; MTPOLB; DNA polymerase subunit gamma-2; mitochondrial; DNA polymerase gamma accessory 55 kDa subunit; p55; Mitochondrial DNA polymerase accessory subunit; MtPolB; PolG-beta
分子量： 55kD
功能： catalytic activity:Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).,disease:Defects in POLG2 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]. 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.,function:Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.,subunit:Heterotrimer composed of a catalytic subunit and an homodimer of accessory subunits.,
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