| WB | 1/1000 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 咨询技术 | Human,Mouse,Rat |
| ICC | 技术咨询 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 咨询技术 | Human,Mouse,Rat |
| Aliases | N-acetylglutamate synthase, mitochondrial, Amino-acid acetyltransferase, N-acetylglutamate synthase long form, N-acetylglutamate synthase short form, N-acetylglutamate synthase conserved domain form, NAGS |
| Entrez GeneID | 162417 |
| WB Predicted band size | 58.2kDa |
| Host/Isotype | Rabbit IgG |
| Antibody Type | Primary antibody |
| Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| Species Reactivity | Human, Mouse |
| Immunogen | This NAGS antibody is generated from a rabbit immunized with a KLH conjugated synthetic peptide between 516-550 amino acids from the C-terminal region of human NAGS. |
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以下是关于NAGS抗体的示例性参考文献(注：以下文献为虚构示例，实际研究中可能需要通过学术数据库验证真实文献)：
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1. **文献名称**：*Autoantibodies Targeting N-Acetylglutamate Synthase in Autoimmune Metabolic Disorders*
**作者**：Zhang L, et al.
**摘要**：本研究首次报道在罕见自身免疫性代谢疾病患者血清中检测到抗NAGS抗体，并探讨其与尿素循环功能异常的关联。实验表明，这些抗体可能通过抑制NAGS酶活性导致高氨血症，为临床诊断提供了新方向。
2. **文献名称**：*Development of a High-Sensitivity Assay for Anti-NAGS Antibodies in Pediatric Hyperammonemia*
**作者**：Martinez S, et al.
**摘要**：开发了一种基于免疫印迹法的抗NAGS抗体检测技术，用于儿童不明原因高氨血症的鉴别诊断。研究发现，部分非遗传性病例中存在抗体阳性，提示自身免疫机制可能参与疾病发生。
3. **文献名称**：*N-Acetylglutamate Synthase Antibodies in Drug-Induced Liver Injury: A Prospective Cohort Study*
**作者**：Tanaka K, et al.
**摘要**：通过前瞻性队列研究，发现药物性肝损伤患者中抗NAGS抗体阳性率显著升高，提示其可能作为药物肝毒性的新型生物标志物，并可能与线粒体功能障碍相关。
4. **文献名称**：*Structural Characterization of NAGS Epitopes Recognized by Autoantibodies*
**作者**：Chen W, et al.
**摘要**：利用重组NAGS蛋白和单克隆抗体技术，鉴定了自身抗体靶向的NAGS抗原表位区域，为理解抗体介导的酶活性抑制机制提供了结构生物学依据。
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**注意**：以上文献为示例性质，实际研究中建议通过 **PubMed**、**Google Scholar** 或 **Web of Science** 等平台，以关键词“NAGS antibody”或“N-acetylglutamate synthase autoantibody”检索最新文献。若需具体文献，可进一步提供研究背景或疾病方向以缩小范围。
NAGS (N-acetylglutamate synthase) is a mitochondrial enzyme critical for the urea cycle, catalyzing the synthesis of N-acetylglutamate (NAG), an essential allosteric activator of carbamoyl phosphate synthetase 1 (CPS1). CPS1 initiates the first step of ammonia detoxification, making NAGS indispensable in regulating nitrogen metabolism. Genetic mutations in the *NAGS* gene cause rare autosomal recessive disorders, leading to hyperammonemia, neurological impairments, and potentially fatal outcomes if untreated.
NAGS antibodies are primarily discussed in two contexts. First, anti-NAGS autoantibodies are occasionally detected in autoimmune hepatitis (AIH) or other autoimmune conditions, though their clinical specificity remains unclear. They may arise secondary to mitochondrial damage or molecular mimicry. Second, recombinant NAGS proteins are used to generate monoclonal or polyclonal antibodies in research settings. These antibodies aid in diagnosing congenital NAGS deficiency via enzymatic assays or Western blotting, differentiating it from other urea cycle disorders.
Clinically, NAGS deficiency is managed with N-carbamoyl-L-glutamate (carglumic acid), a stable NAG analog. While NAGS antibodies are not routinely used in diagnostics, their presence in research underscores their role in elucidating urea cycle dysregulation and autoimmune pathologies. Further studies are needed to clarify their pathogenic significance and utility in biomarker development.
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