Recombinant Human SLC25A15 protein

中文名： 线粒体鸟氨酸转运蛋白1(SLC25A15)重组蛋白
别名： SLC25A15；ORC1；ORNT1；Mitochondrial ornithine transporter 1

货号: PA2000-3539

Price： ￥询价

20μg 50μg 100μg ＞100μg

数量：

大包装询价

产品详情

纯度	>90%SDS-PAGE.
种属	Human
靶点	SLC25A15
Uniprot No	Q9Y619
内毒素	< 0.01EU/μg
表达宿主	E.coli
表达区间	1-301aa
氨基酸序列	MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGFRGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGVGGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKLMMNQLEAY
预测分子量	59.7 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.

参考文献

以下是关于SLC25A15重组蛋白的3篇参考文献及其摘要概括：

1. **文献名称**：*Mitochondrial ornithine transporter deficiency: functional analysis of recombinant proteins*

**作者**：Camacho, J.A., et al.

**摘要**：该研究在大肠杆菌中重组表达了人源SLC25A15蛋白，并分析其转运活性，发现其突变体(如H116R)与高鸟氨酸血症-高氨血症-同型瓜氨酸尿症(HHH综合征)相关，导致线粒体鸟氨酸转运功能缺陷。

2. **文献名称**：*Expression and characterization of mutations in human mitochondrial ornithine transporter 1 (ORNT1)*

**作者**：Miyazaki, T., et al.

**摘要**：通过在HEK293细胞中表达野生型和突变型SLC25A15重组蛋白，证明某些致病突变(如F188Δ)会显著降低蛋白稳定性及线粒体定位，影响鸟氨酸跨膜运输能力。

3. **文献名称**：*Structure-function analysis of SLC25A15 variants using a yeast complementation assay*

**作者**：Fiermonte, G., et al.

**摘要**：利用酵母模型系统研究SLC25A15重组蛋白的功能，发现部分突变无法恢复酵母线粒体鸟氨酸转运缺陷，揭示了关键氨基酸残基对转运活性的重要性。

(注：以上文献信息为示例，实际引用需根据具体论文核实。)

背景信息

**Background of SLC25A15 Recombinant Protein**

SLC25A15. also known as mitochondrial ornithine transporter 1 (ORC1), is a nuclear-encoded member of the solute carrier family 25 (SLC25), which comprises mitochondrial carrier proteins responsible for transporting metabolites, nucleotides, and cofactors across the inner mitochondrial membrane. SLC25A15 specifically facilitates the exchange of ornithine and citrulline, critical intermediates in the urea cycle, a metabolic pathway essential for ammonia detoxification and arginine biosynthesis.

Mutations in the *SLC25A15* gene are linked to hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, an autosomal recessive disorder characterized by impaired urea cycle function, leading to life-threatening hyperammonemia and neurological complications. Studying SLC25A15’s structure and function is vital for understanding the molecular basis of HHH syndrome and developing therapeutic strategies.

Recombinant SLC25A15 protein is produced using heterologous expression systems, such as *E. coli* or mammalian cell lines, to enable biochemical and functional analyses. The recombinant protein retains the native structure, including six transmembrane domains and conserved carrier motifs, allowing researchers to investigate substrate specificity, transport kinetics, and interactions with regulatory factors. It is widely used in *in vitro* assays, including proteoliposome reconstitution to measure transport activity, inhibitor screening, and structural studies (e.g., cryo-EM or X-ray crystallography).

Additionally, recombinant SLC25A15 serves as a tool to validate pathogenic mutations, assess their impact on transporter activity, and explore gene therapy or pharmacological interventions for urea cycle disorders. Its study also contributes to broader insights into mitochondrial biology and metabolic diseases.