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产品中心-北京博奥森生物技术有限公司
Recombinant Human SLC25A4 Protein, N-His-KSI (bs-105405P)  
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20ug/980.00元
50ug/1880.00元
100ug/2680.00元
大包装/询价
产品编号 bs-105405P
英文名称 Recombinant Human SLC25A4 Protein, N-His-KSI
中文名称
别    名 ADP/ATP translocase 1; ADP; ATP carrier protein 1; ADP; ATP carrier protein; heart/skeletal muscle isoform T1; Adenine nucleotide translocator 1; ANT 1; Solute carrier family 25 member 4; SLC25A4; AAC1; ANT1  
克 隆 号
理论分子量 24.96 kDa
性    状 Lyophilized
纯    度 >90% as determined by SDS-PAGE.
缓 冲 液 Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
保存条件 Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
产品介绍 Defects in SLC25A4 are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]. 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.

SWISS:
P12235

Gene ID:
291

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