DKC1 抗体 (AA 81-190) (Biotin)
Quick Overview for DKC1 抗体 (AA 81-190) (Biotin) (ABIN1700646)
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 81-190
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预测反应
- Human,Mouse,Rat,Dog,Cow,Sheep,Pig,Horse,Chicken,Rabbit
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纯化方法
- Purified by Protein A.
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免疫原
- KLH conjugated synthetic peptide derived from human Dyskerin
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亚型
- IgG
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应用备注
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WB 1:300-5000
IHC-P 1:200-400
IHC-F 1:100-500 -
限制
- 仅限研究用
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状态
- Liquid
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浓度
- 1 μg/μL
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缓冲液
- Aqueous buffered solution containing 0.01M TBS ( pH 7.4) with 1 % BSA, 0.03 % Proclin300 and 50 % Glycerol.
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储存液
- ProClin
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注意事项
- This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.
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储存条件
- -20 °C
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储存方法
- Store at -20°C for 12 months.
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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
- Dyskerin
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背景
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Synonyms: CBF5, CBF5 homolog, Cbf5p homolog, DKC 1, DKC, Dkc1, DKC1_HUMAN, DKCX, Dyskeratosis congenita 1, Dyskeratosis congenita 1 dyskerin, Dyskerin, H/ACA ribonucleoprotein complex subunit 4, NAP 57, NAP57, NAP-57, NOLA 4, NOLA4, Nopp140 associated protein of 57 kDa, Nopp140-associated protein of 57 kDa, Nucleolar protein family A member 4, Nucleolar protein NAP57, snoRNP protein DKC1, XAP 101, XAP101.
Background: 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 (1). GAR1, NHP2 and dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies (2). The dyskerin gene maps to chromosome Xq28 (3). Missense mutations in the dyskerin gene interfere with normal nuclear localization of dyskerin and cause Dyskeratosis congenita (DKC) (4). 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 (5,6). The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein (2,7).
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基因ID
- 1736
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途径
- Telomere Maintenance
抗原
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