FITC标记的核仁蛋白NAP57抗体
产品名称： FITC标记的核仁蛋白NAP57抗体
英文名称： Anti-DKC1/FITC
产品编号： HZ-13007R-FITC
产品价格： null
产品产地： 中国/上海
品牌商标： HZbscience
更新时间： 2023-08-17T10:24:20
使用范围： ICC=1:50-200 IF=1:50-200
上海沪震实业有限公司
- 联系人 : 鲍丽雯
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- 邮编 : 200612
- 所在区域 : 上海
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Rabbit Anti-DKC1/FITC Conjugated antibody
| FITC标记的核仁蛋白NAP57抗体 |
| 英文名称 | Anti-DKC1/FITC |
| 中文名称 | FITC标记的核仁蛋白NAP57抗体 |
| 别 名 | 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. |
| 规格价格 | 100ul/2980元 购买 大包装/询价 |
| 说 明 书 | 100ul |
| 研究领域 | 染色质和核信号 转录调节因子 表观遗传学 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, |
| 产品应用 | ICC=1:50-200 IF=1:50-200 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 58kDa |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human DKC1/Dyskerin/NAP57 |
| 亚 型 | IgG |
| 纯化方法 | affinity purified by Protein A |
| 储 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存条件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 产品介绍 | 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). Function: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Subcellular Location: Cytoplasm and Nucleus, nucleolus. Nucleus, Cajal body. Also localized to Cajal bodies. Tissue Specificity: Ubiquitously expressed. DISEASE: Defects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]. XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]. HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. Similarity: Belongs to the pseudouridine synthase TruB family. Contains 1 PUA domain. Database links: Entrez Gene: 1736 Human Entrez Gene: 245474 Mouse Entrez Gene: 170944 Rat Omim: 300126 Human SwissProt: O60832 Human SwissProt: Q9ESX5 Mouse SwissProt: P40615 Rat Unigene: 4747 Human Unigene: 291062 Mouse Unigene: 4223 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications |
Dyskerin(NAP57)与伴侣蛋白Nopp140结合，与GAR1(NOLA1)、NHP2(NOLA2)和Nop10形成小核糖核蛋白颗粒，用于尿苷异构化成假尿苷(1)。GAR1、NHP2和DyskRin定位于核仁的致密纤维组分和核Cajal小体（2）。DysSerin基因定位于染色体XQ28（3）。dyskerin基因的错义突变干扰dyskerin的正常核定位，导致先天性骨骼发育不良(DKC)(4)。DKC是一种罕见的X连锁骨髓疾病，其特征是皮肤色素沉着、指甲营养不良、睾丸萎缩和口腔粘膜白斑。GAR1基因定位于染色体4q25（5，6）。NHP2基因定位于染色体5q35.3，编码155个氨基酸蛋白（2，7）。