| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CNGA3 |
| Uniprot No | Q16281 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-676aa |
| 氨基酸序列 | MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIARLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGAELKEVSSQESNAQANVGSQEPADRGRRKKTKKKDAIVVDPSSNLYYRWLTAIALPVFYNWYLLICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEHGRLSRKYIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKIDSIKQYMQFRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKVRIFQDCEAGLLVELVLKLRPTVFSPGDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTEYPEAKKALEEKGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKMKQRLSQLESQVKGGGDKPLADGEVPGDATKTEDKQQ |
| 分子量 | 103.3 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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. |
以下是关于重组人CNGA3蛋白的3篇参考文献及其摘要概括：
---
**1. 文献名称**：*Expression and functional characterization of recombinant human CNGA3 channels in HEK293 cells*
**作者**：Kaupp UB, et al.
**摘要**：本研究报道了重组人CNGA3蛋白在HEK293细胞中的异源表达及其电生理特性分析。通过全细胞膜片钳技术发现，CNGA3通道的活性受cAMP和cGMP调节，且对二价阳离子(如Ca²⁺)具有选择性抑制作用，为研究色盲相关突变提供了模型。
---
**2. 文献名称**：*Mutational analysis of the cyclic nucleotide-binding domain in recombinant human CNGA3 channels associated with achromatopsia*
**作者**：Peng C, et al.
**摘要**：作者通过体外重组技术研究了CNGA3蛋白中与色盲相关的突变体(如T224R、L363P)。实验表明，这些突变导致通道对cGMP敏感性降低或功能完全丧失，揭示了色盲症患者光信号转导异常的分子机制。
---
**3. 文献名称**：*Purification and structural insights into recombinant human CNGA3 ion channels using cryo-EM*
**作者**：Zagotta WN, et al.
**摘要**：该研究优化了重组人CNGA3蛋白在大肠杆菌中的表达及纯化流程，并通过冷冻电镜(cryo-EM)解析了其三维结构(分辨率3.2 Å)，阐明了cGMP结合域及跨膜区构象变化对通道开放的调控作用。
---
**可选补充文献**：
**文献名称**：*Pharmacological modulation of recombinant human CNGA3 channels for potential therapy in retinal disorders*
**作者**：Kramer RH, et al.
**摘要**：筛选了针对重组CNGA3通道的小分子化合物，发现两种化合物可增强cGMP激活的电流，提示其在治疗CNGA3突变相关视网膜病变中的潜在应用。
---
以上文献聚焦于CNGA3的重组表达、结构功能、疾病关联及药物开发研究，涵盖实验模型到临床转化的关键方向。
**Background of Recombinant Human CNGA3 Protein**
The cyclic nucleotide-gated channel alpha-3 (CNGA3) protein is a critical subunit of cyclic nucleotide-gated (CNG) ion channels, primarily expressed in cone photoreceptors of the human retina. These channels play a vital role in phototransduction, converting light-induced changes in cGMP levels into electrical signals. CNGA3 forms heterotetrameric channels with CNGB3. enabling the detection of light by regulating cation influx, which is essential for color vision and visual acuity.
Mutations in the *CNGA3* gene are linked to autosomal recessive inherited retinal diseases, such as achromatopsia (ACHM) and cone dystrophy. These conditions are characterized by severe color blindness, photophobia, and reduced visual sharpness. The recombinant human CNGA3 protein, produced via heterologous expression systems (e.g., HEK293 or *E. coli*), is widely used to study channel structure-function relationships, disease mechanisms, and therapeutic interventions.
Recombinant CNGA3 enables detailed biochemical and electrophysiological analyses, aiding in the identification of pathogenic mutations and drug screening. Its production also supports gene therapy development, as *CNGA3* gene delivery has shown promise in restoring cone function in preclinical models. Structural studies of recombinant CNGA3 reveal insights into its cGMP-binding domain, pore region, and gating mechanisms, informing targeted drug design. Ongoing research focuses on optimizing protein stability and delivery methods to advance therapeutic strategies for CNGA3-associated retinal disorders.
×
