重组人DKC1/Dyskerin蛋白(ab152335)
Key features and details
- Expression system: Wheat germ
- Suitable for: ELISA, WB, SDS-PAGE
描述
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产品名称
重组人DKC1/Dyskerin蛋白 -
表达系统
Wheat germ -
Accession
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蛋白长度
Protein fragment -
无动物成分
No -
性质
Recombinant -
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种属
Human -
序列
LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVI MERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS -
预测分子量
37 kDa including tags -
氨基酸
321 to 420
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相关产品
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Related Products
技术指标
Our Abpromise guarantee covers the use of ab152335 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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应用
ELISA
Western blot
SDS-PAGE
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形式
Liquid -
补充说明
This product was previously labelled as DKC1.
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Concentration information loading...
制备和贮存
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稳定性和存储
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
常规信息
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别名
- CBF5
- CBF5 homolog
- Cbf5p homolog
see all -
功能
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.
Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells). -
组织特异性
Ubiquitously expressed. -
疾病相关
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. -
序列相似性
Belongs to the pseudouridine synthase TruB family.
Contains 1 PUA domain. -
细胞定位
Cytoplasm and Nucleus > nucleolus. Nucleus > Cajal body. Also localized to Cajal bodies. - Information by UniProt
实验方案
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
数据表及文件
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Datasheet download
文献 (0)
ab152335 尚未被引用在任何文献中。