| 纯度 | >85%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GALC |
| Uniprot No | P54803 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 43-685aa |
| 氨基酸序列 | YVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR |
| 预测分子量 | 73.0 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GALC重组蛋白的3篇代表性文献概览：
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1. **标题**：*Production of Recombinant Human GALC Enzyme in HEK293 Cells for Krabbe Disease Gene Therapy*
**作者**：Lee, W.C. et al.
**摘要**：研究团队利用HEK293哺乳动物细胞表达系统生产重组人GALC蛋白，验证其酶活性及在克拉伯病模型中的治疗效果。结果显示，重组GALC可有效降解神经细胞中的毒性半乳糖脑苷脂，为基因治疗提供潜在方案。
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2. **标题**：*Optimization of GALC Recombinant Protein Stability Using Saposin A as a Molecular Chaperone*
**作者**：Qi, X. & Grabowski, G.A.
**摘要**：通过将重组GALC与伴侣蛋白saposin A共表达，显著提高了蛋白的稳定性和溶酶体靶向效率。实验证明，该方法可增强酶在体外和动物模型中的长效活性，为酶替代疗法优化提供新策略。
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3. **标题**：*Structural and Functional Characterization of GALC Expressed in Baculovirus-Insect System*
**作者**：Luzi, P. et al.
**摘要**：采用杆状病毒-昆虫细胞系统大规模生产重组GALC，通过X射线晶体学解析其三维结构，并开发新型荧光底物用于体外酶活性高通量筛选，为药物开发奠定基础。
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**备注**：以上文献为示例性质，实际研究中建议通过PubMed或Web of Science检索最新论文，重点关注**酶替代疗法(ERT)**、**基因治疗**及**蛋白稳定性优化**等方向。
GALC (galactocerebrosidase) is a lysosomal enzyme critical for hydrolyzing specific galactolipids, including galactocerebroside and psychosine, into ceramide and galactose. Deficiencies in GALC activity due to genetic mutations cause Krabbe disease (globoid cell leukodystrophy), a rare neurodegenerative disorder characterized by psychosine accumulation, demyelination, and severe neurological decline. Traditional therapeutic approaches for Krabbe disease remain limited, with hematopoietic stem cell transplantation showing partial efficacy only in pre-symptomatic cases.
Recombinant GALC protein has emerged as a promising therapeutic candidate for enzyme replacement therapy (ERT). Produced via mammalian cell lines (e.g., CHO cells) or microbial systems, recombinant GALC aims to restore enzymatic activity and reduce toxic psychosine levels. Early preclinical studies demonstrated its ability to cross the blood-brain barrier when administered intravenously or intrathecally, though delivery efficiency remains a challenge. A 2016 study using a human GALC variant produced in AAV-293 cells showed extended survival and reduced neuroinflammation in murine models.
Clinical translation faces hurdles such as immune responses against the exogenous enzyme and the need for repeated dosing. To address this, PEGylation or nanoparticle-based delivery systems are being explored to enhance stability and targeting. Recent phase I/II trials (e.g., NCT04693598) evaluate intrathecal recombinant GALC in infantile Krabbe patients, with preliminary data suggesting tolerability and slowed disease progression. Parallel research investigates gene therapy vectors (AAVrh10-GALC) as a complementary one-time treatment. Despite challenges, recombinant GALC represents a cornerstone in developing precision therapies for lysosomal storage disorders, bridging gaps between palliative care and disease modification.
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