| 纯度 | > 80 % SDS-PAGE. |
| 种属 | Human |
| 靶点 | BCKDHA |
| Uniprot No | P12694 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 46-445aa |
| 氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MSSLDDKPQF PGASAEFIDK LEFIQPNVIS GIPIYRVMDR QGQIINPSED PHLPKEKVLK LYKSMTLLNT MDRILYESQR QGRISFYMTN YGEEGTHVGS AAALDNTDLV FGQYREAGVL MYRDYPLELF MAQCYGNISD LGKGRQMPVH YGCKERHFVT ISSPLATQIP QAVGAAYAAK RANANRVVIC YFGEGAASEG DAHAGFNFAA TLECPIIFFC RNNGYAISTP TSEQYRGDGI AARGPGYGIM SIRVDGNDVF AVYNATKEAR RRAVAENQPF LIEAMTYRIG HHSTSDDSSA YRSVDEVNYW DKQDHPISRL RHYLLSQGWW DEEQEKAWRK QSRRKVMEAF EQAERKPKPN PNLLFSDVYQ EMPAQLRKQQ ESLARHLQTY GEHYPLDHFD K |
| 预测分子量 | 48 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BCKDHA重组蛋白的3篇参考文献及其摘要概括：
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1. **文献名称**：*Expression and Purification of Recombinant Human BCKDHA in Escherichia coli for Functional Studies*
**作者**：Smith J, et al.
**摘要**：该研究报道了通过大肠杆菌表达系统成功表达并纯化人源BCKDHA重组蛋白，优化了诱导条件及纯化步骤。重组蛋白在体外表现出支链α-酮酸脱氢酶活性，为后续酶动力学及突变致病机制研究提供了工具。
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2. **文献名称**：*Structural Insights into BCKDHA Mutations Linked to Maple Syrup Urine Disease*
**作者**：Li X, et al.
**摘要**：通过哺乳动物细胞表达系统获得高纯度BCKDHA重组蛋白，结合X射线晶体学解析其三维结构。研究揭示了致病突变(如R220C)导致蛋白构象异常及酶复合体稳定性降低的分子机制。
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3. **文献名称**：*Development of a BCKDHA-Specific Monoclonal Antibody Using Recombinant Protein Antigens*
**作者**：Wang Y, et al.
**摘要**：利用昆虫细胞表达的重组BCKDHA蛋白作为抗原，成功制备高特异性单克隆抗体。该抗体可用于免疫印迹及组织样本中BCKDHA的定量检测，为枫糖尿病的临床诊断提供了新方法。
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注：上述文献信息为示例，实际引用需根据具体论文调整。建议通过PubMed或Web of Science以关键词“BCKDHA recombinant”检索最新研究。
The branched-chain keto acid dehydrogenase E1 subunit alpha (BCKDHA) is a critical component of the mitochondrial branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which plays a central role in the catabolism of branched-chain amino acids (BCAAs: leucine, isoleucine, valine). This multienzyme complex catalyzes the oxidative decarboxylation of branched-chain α-ketoacids derived from BCAAs, a rate-limiting step that links amino acid metabolism to the tricarboxylic acid (TCA) cycle. BCKDHA encodes the E1α subunit of the BCKDH complex, functioning alongside the E1β, E2. and E3 subunits to regulate this irreversible step.
Mutations in the BCKDHA gene are associated with maple syrup urine disease (MSUD), an autosomal recessive disorder characterized by the toxic accumulation of BCAAs and their ketoacids, leading to severe neurological complications. Recombinant BCKDHA protein is produced using expression systems (e.g., E. coli, mammalian cells) to study its structure, enzymatic mechanisms, and interactions within the BCKDH complex. It enables in vitro analysis of pathogenic variants, drug screening for MSUD, and investigations into BCAA metabolism dysregulation in conditions like diabetes, cancer, and obesity.
The purified recombinant protein serves as a tool for developing diagnostic assays, structural studies (e.g., X-ray crystallography), and evaluating therapeutic compounds targeting BCKDH activity. Its production supports advances in understanding metabolic regulation and developing treatments for BCKDHA-related disorders.
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