Recombinant Human ORNT1 protein

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

货号: PA2000-1112

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	ORNT1
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	59.7kDa
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ORNT1重组蛋白的3篇代表性文献及其摘要概括：

1. **文献名称**：*Functional characterization of recombinant human ORNT1: Insights into mitochondrial ornithine transport*

**作者**：Camacho JA et al.

**摘要**：研究通过在大肠杆菌中重组表达人源ORNT1蛋白，验证其在线粒体膜上的鸟氨酸转运功能，并发现其突变与高氨血症相关，为尿素循环障碍机制提供依据。

2. **文献名称**：*Expression and purification of the human SLC25A15 (ORNT1) transporter in Saccharomyces cerevisiae*

**作者**：Fiermonte G et al.

**摘要**：利用酵母表达系统成功纯化重组ORNT1蛋白，分析其动力学特性，发现其对鸟氨酸的特异性结合及pH依赖性，为结构功能研究奠定基础。

3. **文献名称**：*Structural insights into ORNT1 mutations causing HHH syndrome*

**作者**：Indiveri C et al.

**摘要**：通过重组表达突变型ORNT1蛋白，结合功能实验揭示多个致病突变(如R179X)导致转运活性丧失，阐明了高鸟氨酸-高氨血症-高同型瓜氨酸尿症(HHH综合征)的分子机制。

注：上述文献为示例，实际引用时需核对真实来源及作者信息。若需扩展，可结合具体研究领域(如代谢疾病、蛋白结构或药物筛选)筛选相关论文。

背景信息

ORNT1. or Ornithine Transporter 1. is a mitochondrial membrane protein encoded by the *SLC25A15* gene in humans. It plays a critical role in the urea cycle, a metabolic pathway essential for detoxifying ammonia by converting it into urea for excretion. Specifically, ORNT1 facilitates the transport of ornithine, a key intermediate, across the mitochondrial inner membrane. This transport is vital for sustaining the cyclic function of the urea cycle, as ornithine is required to regenerate citrulline and arginine, enabling continuous ammonia elimination.

Mutations in the *SLC25A15* gene disrupt ORNT1 function, leading to hyperammonemia-hyperornithinemia-homocitrullinuria (HHH) syndrome, a rare autosomal recessive disorder. Patients with HHH syndrome experience toxic ammonia accumulation, neurological impairment, and potentially life-threatening complications. Studying ORNT1’s structure and mechanism is thus crucial for understanding urea cycle disorders and developing targeted therapies.

Recombinant ORNT1 protein, produced via genetic engineering in systems like *E. coli* or mammalian cell cultures, enables researchers to investigate its biochemical properties, transport kinetics, and interactions with substrates or inhibitors. This tool has advanced in vitro studies, including structural analyses (e.g., crystallography) and drug screening for molecules that modulate transport activity. Additionally, recombinant ORNT1 serves as a reference for comparing pathogenic variants, aiding in the identification of mutation-specific functional deficits.

Beyond basic research, recombinant ORNT1 holds potential for gene therapy applications, such as delivering functional protein to compensate for defective variants in HHH syndrome. Its study also contributes to broader insights into mitochondrial carrier family proteins, which regulate diverse metabolic processes. Overall, ORNT1 recombinant protein represents a valuable resource for bridging molecular biology with clinical innovations in metabolic diseases.