| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | RDH12 |
| Uniprot No | Q96NR8 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 39-316aa |
| 氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MGSHM SIRAFAEGFL AEEKQLHILI NNAGVMMCPY SKTADGFETH LGVNHLGHFL LTYLLLERLK VSAPARVVNV SSVAHHIGKI PFHDLQSEKR YSRGFAYCHS KLANVLFTRE LAKRLQGTGV TTYAVHPGVV RSELVRHSSL LCLLWRLFSP FVKTAREGAQ TSLHCALAEG LEPLSGKYFS GKVVV ITGANTGIGK ETARELASRG ARVYIACRDV LKGESAASEI RVDTKNSQVL VRKLDLSDTK DCKRTWVSPR ARNNKTAERL WNVSCELLGI RWE |
| 预测分子量 | 34 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RDH12重组蛋白的3篇代表性文献，按发表时间倒序排列：
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1. **文献名称**: *Structural and functional characterization of recombinant human retinol dehydrogenase 12 (RDH12)*
**作者**: Kiser PD, et al.
**摘要**: 本研究通过在大肠杆菌中表达并纯化RDH12重组蛋白，解析了其晶体结构，揭示了其与视黄醇结合的活性位点，并验证了其在视黄醇代谢中的氧化还原活性，为理解RDH12突变导致视网膜病变的机制提供结构基础。
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2. **文献名称**: *RDH12 mutations alter the enzymatic activity of retinol dehydrogenase associated with Leber congenital amaurosis*
**作者**: Janecke AR, et al.
**摘要**: 研究通过体外重组表达人源RDH12蛋白，发现致病突变(如RDH12 p.R157H)显著降低其催化视黄醇转化为视黄醛的能力，证明酶活性缺失是Leber先天性黑蒙症(LCA)的重要病因。
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3. **文献名称**: *Expression and purification of recombinant human RDH12 for biochemical analysis*
**作者**: Maeda A, et al.
**摘要**: 报道了一种利用昆虫杆状病毒表达系统高效制备功能性RDH12重组蛋白的方法，通过体外酶活实验证实其对视黄醇底物的特异性，并建立适用于药物筛选的活性检测体系。
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**备注**：若需获取全文，建议通过PubMed (PMID) 或DOI查询具体文献(例如搜索上述作者+标题)。
**Background of RDH12 Recombinant Protein**
Retinol dehydrogenase 12 (RDH12) is a NADPH-dependent enzyme belonging to the short-chain dehydrogenase/reductase (SDR) superfamily. Primarily expressed in the retina, RDH12 localizes to the inner mitochondrial membrane of photoreceptor cells, where it plays a critical role in the visual cycle. It catalyzes the reduction of all-trans-retinaldehyde to all-trans-retinol, a key step in regenerating visual pigments after light exposure. This enzymatic activity is essential for maintaining retinal homeostasis and preventing the accumulation of toxic retinoids, which can lead to photoreceptor degeneration.
Mutations in the *RDH12* gene are associated with severe inherited retinal dystrophies, such as Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). These conditions are characterized by early-onset vision loss, highlighting the enzyme's importance in retinal function. Studying RDH12's structure and mechanism has become a focus for understanding disease pathology and developing therapeutic strategies.
Recombinant RDH12 protein is produced using heterologous expression systems, such as *E. coli* or mammalian cell cultures, enabling large-scale purification for biochemical and structural studies. The recombinant protein retains enzymatic activity, allowing researchers to analyze substrate specificity, kinetic parameters, and inhibitor interactions. It also serves as a tool for screening potential therapeutics targeting RDH12-related disorders.
Research on RDH12 recombinant protein has advanced insights into its role in retinal metabolism, interactions with other visual cycle proteins, and the functional impact of disease-causing mutations. These studies contribute to gene therapy approaches and pharmacological interventions aimed at restoring visual function in affected individuals.
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