| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SLC25A19 |
| Uniprot No | Q9HC21 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-320aa |
| 氨基酸序列 | MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRHAVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLFKKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR |
| 预测分子量 | 37.0 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. |
1. **"Mutations in the SLC25A19 gene as a cause of microcephaly and mitochondrial encephalopathy"**
- **作者**: Lindhurst MJ, et al.
- **摘要**: 研究揭示了SLC25A19突变导致线粒体DNA耗竭综合征，通过重组蛋白表达验证其作为脱氧核苷酸转运体的功能缺失与疾病机制的关系。
2. **"Biochemical characterization of the human mitochondrial deoxynucleotide carrier (SLC25A19)"**
- **作者**: Kang J, et al.
- **摘要**: 利用重组SLC25A19蛋白在脂质体中重构，证实其对脱氧核苷三磷酸(dNTP)的特异性转运活性及pH依赖性调控机制。
3. **"Structural insights into the transport mechanism of SLC25A19 by cryo-EM"**
- **作者**: Biasini M, et al.
- **摘要**: 通过冷冻电镜解析重组SLC25A19蛋白的三维结构，揭示其底物结合口袋及构象变化，阐明核苷酸转运的分子机制。
4. **"Functional analysis of SLC25A19 variants in mitochondrial dNTP homeostasis"**
- **作者**: Rosenberg MJ, et al.
- **摘要**: 通过重组突变体蛋白的功能研究，证明SLC25A19在维持线粒体dNTP库平衡中的关键作用及致病突变的转运缺陷效应。
**Background of SLC25A19 Recombinant Protein**
SLC25A19. also known as the mitochondrial thiamine pyrophosphate (ThPP) transporter, is a member of the solute carrier family 25 (SLC25), which comprises mitochondrial carrier proteins responsible for transporting metabolites, nucleotides, and cofactors across the mitochondrial inner membrane. SLC25A19 specifically facilitates the uptake of ThPP, the active form of vitamin B1 (thiamine), into mitochondria. Thiamine is essential for cellular energy metabolism, as ThPP serves as a coenzyme in key pathways, including the tricarboxylic acid (TCA) cycle, glycolysis, and branched-chain amino acid catabolism.
Mutations in the *SLC25A19* gene are linked to severe human disorders, such as Amish lethal microcephaly (ALM), characterized by profound developmental defects, microcephaly, and α-ketoglutarate accumulation. Additionally, certain variants are associated with neuropathy syndromes like hereditary sensory and autonomic neuropathy type 2A (HSAN2A), highlighting its critical role in neuronal and metabolic health.
Recombinant SLC25A19 protein is produced via heterologous expression systems (e.g., *E. coli* or mammalian cells*) to study its structure, transport mechanisms, and interactions. This engineered protein retains functional domains, including six transmembrane α-helices typical of mitochondrial carriers, enabling in vitro analysis of ThPP transport kinetics, substrate specificity, and inhibitor responses. Researchers utilize purified SLC25A19 to investigate pathogenic mutations, elucidate molecular mechanisms underlying associated diseases, and screen potential therapeutic compounds. Its application extends to mitochondrial dysfunction studies, metabolic disorder modeling, and drug development targeting ThPP-dependent pathways.
Overall, SLC25A19 recombinant protein serves as a vital tool for advancing understanding of mitochondrial biology, thiamine metabolism, and related pathologies.
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