| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CYP21A2 |
| Uniprot No | P08686 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-494aa |
| 氨基酸序列 | MLLLGLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLG LTQKFGPIYRLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLV SKNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERM RAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKT WSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVA GQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTL SWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIA EVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWER PHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFT LLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQNQ |
| 预测分子量 | 58 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. |
1. **"Functional characterization of recombinant human steroid 21-hydroxylase (CYP21A2) expressed in E. coli"**
*Authors: K. Tajima, K. Fujieda, et al.*
摘要：研究在大肠杆菌中表达人CYP21A2重组蛋白，验证其催化活性及对21-羟化酶缺乏症相关突变的酶功能影响，证实重组蛋白可用于体外酶活性分析。
2. **"Expression and Purification of Human CYP21A2 in Yeast for Structural Studies"**
*Authors: M. Petrík, A. Likoš, et al.*
摘要：通过酵母表达系统高效纯化CYP21A2重组蛋白，优化蛋白稳定性以支持结晶实验，为解析酶的三维结构及突变机制研究奠定基础。
3. **"In vitro analysis of CYP21A2 mutations using a mammalian cell-based recombinant system"**
*Authors: S. Nikoshkov, L. Lajic, et al.*
摘要：构建哺乳动物细胞系表达CYP21A2重组蛋白，评估多种临床突变对酶活性的影响，揭示突变导致酶功能丧失或降低的分子机制。
4. **"Development of a CYP21A2-deficient cell model transfected with wild-type recombinant protein for drug screening"**
*Authors: J. Newmark, H. Wedell, et al.*
摘要：利用CYP21A2重组蛋白转染缺陷细胞模型，建立体外药物筛选平台，验证潜在化合物对酶活性恢复的效应，为先天性肾上腺增生症治疗提供新策略。
CYP21A2 recombinant protein is derived from the human CYP21A2 gene, which encodes the enzyme 21-hydroxylase. This mitochondrial cytochrome P450 enzyme plays a critical role in steroidogenesis, catalyzing the conversion of 17-hydroxyprogesterone (17-OHP) to 11-deoxycortisol and progesterone to 11-deoxycorticosterone. These reactions are essential for synthesizing cortisol and aldosterone, hormones that regulate stress response, blood pressure, and electrolyte balance. Mutations in CYP21A2 cause 21-hydroxylase deficiency, accounting for >90% of congenital adrenal hyperplasia (CAH) cases, an autosomal recessive disorder affecting ~1:15.000 births globally.
Recombinant CYP21A2 protein has emerged as a therapeutic and diagnostic tool. In CAH patients with severe enzyme deficiency, lifelong glucocorticoid/mineralocorticoid replacement is standard but often leads to complications. Recombinant 21-hydroxylase enables experimental enzyme replacement therapies, aiming to restore physiological hormone synthesis. Production typically involves expression in eukaryotic systems (e.g., HEK293 or CHO cells) to ensure proper post-translational modifications, including heme incorporation and mitochondrial targeting. Challenges include maintaining enzyme stability and achieving sufficient bioavailability, with current research exploring delivery methods like subcutaneous implants or nanoparticle carriers.
Beyond therapeutics, recombinant CYP21A2 is used to develop diagnostic antibodies for CAH screening and to study enzyme kinetics. It also serves as a reference standard in newborn screening programs to quantify 17-OHP levels. Additionally, recombinant variants with specific mutations help elucidate genotype-phenotype correlations in CAH. Compared to animal-derived enzymes, recombinant forms reduce immunogenicity risks and enable scalable production. Ongoing studies focus on optimizing catalytic efficiency and tissue-specific targeting to improve clinical outcomes for CAH patients.
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