| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DKC |
| Uniprot No | O60832 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-514aa |
| 氨基酸序列 | ADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS QWPLLLKNFD KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP SSHEVVAWIR RILRVEKTGH SGTLDPKVTG CLIVCIERAT RLVKSQQSAG KEYVGIVRLH NAIEGGTQLS RALETLTGAL FQRPPLIAAV KRQLRVRTIY ESKMIEYDPE RRLGIFWVSC EAGTYIRTLC VHLGLLLGVG GQMQELRRVR SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVITTKG EAICMAIALM TTAVISTCDH GIVAKIKRVI MERDTYPRKW GLGPKASQKK LMIKQGLLDK HGKPTDSTPA TWKQEYVDYS ESAKKEVVAE VVKAPQVVAE AAKTAKRKRE SESESDETPP AAPQLIKKEK KKSKKDKKAK AGLESGAEPG DGDSDTTKKK KKKKKAKEVE LVSE |
| 预测分子量 | 57,6 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于DKC重组蛋白的3篇参考文献的简要列举(注：以下内容为示例性虚构，实际文献需根据具体数据库检索确认)：
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1. **文献名称**：*Structural Insights into the Role of Dyskerin (DKC1) in Telomerase Assembly*
**作者**：Smith A, et al.
**摘要**：该研究通过重组表达人源DKC1蛋白，结合X射线晶体学解析其三维结构，揭示了DKC1与端粒酶RNA组分(TERC)的关键结合位点，为先天性角化不良症致病机制提供了结构基础。
2. **文献名称**：*Functional Characterization of Recombinant DKC1 Mutants in Ribosomal RNA Processing*
**作者**：Chen L, Wang Y.
**摘要**：作者利用大肠杆菌系统重组表达DKC1突变体蛋白，发现其假尿嘧啶合成酶活性缺失会导致rRNA加工异常，提示DKC1在核糖体生物合成中的直接作用。
3. **文献名称**：*Recombinant Dyskerin Restores Telomerase Activity in DKC1-Deficient Cellular Models*
**作者**：Garcia R, et al.
**摘要**：通过哺乳动物细胞表达重组DKC1蛋白，成功恢复先天性角化不良症患者细胞中端粒酶活性，为基因治疗提供了体外实验依据。
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如需具体文献，建议在PubMed、Web of Science等平台以“DKC1 recombinant protein”“dyskerin expression”为关键词检索近期研究。
DKC recombinant proteins are engineered variants derived from the dyskerin protein, a critical component of the telomerase complex and small nucleolar ribonucleoproteins (snoRNPs). Dyskerin, encoded by the *DKC1* gene, plays a dual role in maintaining telomere stability and guiding ribosomal RNA (rRNA) modification. Mutations in *DKC1* are linked to dyskeratosis congenita (DKC), a rare inherited disorder characterized by bone marrow failure, abnormal skin pigmentation, and increased cancer risk. These mutations disrupt dyskerin’s function, leading to accelerated telomere shortening and impaired ribosome biogenesis, which underlies the disease’s pathology.
Recombinant DKC proteins are produced using expression systems like *E. coli* or mammalian cells, enabling researchers to study dyskerin’s structure-function relationships, interactions with telomerase RNA (TERC), and role in rRNA processing. These proteins are pivotal in developing therapeutic strategies, such as telomerase activation or gene therapy, to counteract telomere attrition in DKC and related conditions like idiopathic pulmonary fibrosis. Additionally, they serve as tools for high-throughput drug screening to identify compounds that stabilize dyskerin or enhance telomerase activity.
Despite progress, challenges remain in ensuring recombinant dyskerin’s stability, proper post-translational modifications, and targeted delivery *in vivo*. Current research also explores its broader implications in aging and cancer, where telomere dynamics are central. By bridging molecular insights with translational applications, DKC recombinant proteins offer a promising avenue for understanding and treating telomere-related disorders.
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