DKC1 抗体 (AA 171-220)
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Quick Overview for DKC1 抗体 (AA 171-220) (ABIN5540295)
抗原
See all DKC1 抗体适用
宿主
克隆类型
标记
应用范围
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抗原表位
- AA 171-220
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特异性
- The antibody detects endogenous levels of Dyskerin protein. (region surrounding Lys203)
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纯化方法
- Affinity Chromatography using epitope-specific immunogen
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免疫原
- Synthetic peptide, corresponding to amino acids 171-220 of Human Dyskerin.
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应用备注
- Western blot: 1/500-1/1000. Immunofluorescence : 1/50-1/200. Immunohistochemistry on Paraffin Sections: 1/50-1/200.
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限制
- 仅限研究用
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状态
- Liquid
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缓冲液
- 95 % by SDS-PAGE) Aff - Purified
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储存液
- Sodium azide
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注意事项
- This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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储存条件
- 4 °C,-20 °C
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储存方法
- Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer. Avoid repeated freezing and thawing. Shelf life: one year from despatch.
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有效期
- 12 months
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- DKC1 (Dyskeratosis Congenita 1, Dyskerin (DKC1))
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别名
- dkc1,nola4
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背景
- Dyskerin (NAP57) associates with the chaperone protein Nopp140 and forms a small ribonucleoprotein particle with GAR1 (NOLA1), NHP2 (NOLA2) and Nop10 for the isomerization of uridine to pseudouridine. GAR1, NHP2 and Dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies. The Dyskerin gene maps to chromosome Xq28. Missense mutations in the Dyskerin gene interfere with normal nuclear localization of Dyskerin and cause Dyskeratosis congenita (DKC). DKC is a rare, X-linked bone marrow disorder characterized by cutaneous hyperpigmentation, dystrophy of the nails, atrophy of the testicles and leukoplakia of the oral mucosa. The GAR1 gene maps to chromosome 4q25 and encodes a 28 kDa protein. The NHP2 gene maps to chromosome 5q35.3 and encodes a 155 amino acid protein.
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UniProt
- O60832
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途径
- Telomere Maintenance
抗原
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