| WB | 咨询技术 | 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 | 1/5000-1/10000 | Human,Mouse,Rat |
| Aliases | UPS; PBGD; PORC; PBG-D |
| WB Predicted band size | 39 kDa |
| 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, Rat |
| Immunogen | Fusion protein of human HMBS |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
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以下是3篇关于HMBS抗体的参考文献摘要(注：以下内容为示例性概括，实际文献需通过学术数据库检索确认)：
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1. **文献名称**: "Development and characterization of a monoclonal antibody against human hydroxymethylbilane synthase (HMBS)"
**作者**: Smith J, et al.
**摘要**: 本研究报道了一种新型小鼠单克隆抗体的开发，该抗体针对人源HMBS蛋白。通过Western blot和免疫组化验证，证明其特异性高，可用于检测细胞和组织中的HMBS表达水平，为研究卟啉症等代谢疾病提供工具。
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2. **文献名称**: "HMBS antibody-based detection of enzyme deficiency in acute intermittent porphyria"
**作者**: Lee S, et al.
**摘要**: 利用HMBS特异性抗体建立了一种ELISA检测方法，用于诊断急性间歇性卟啉症(AIP)。研究发现，AIP患者中HMBS蛋白表达显著降低，抗体检测可作为辅助诊断手段，与基因测序结果高度一致。
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3. **文献名称**: "Structural insights into HMBS mutations using antibody-guided epitope mapping"
**作者**: Garcia R, et al.
**摘要**: 通过HMBS抗体进行表位定位，分析了HMBS基因突变导致的蛋白结构变化。研究揭示了特定突变如何破坏酶活性位点，为理解HMBS功能异常相关疾病的分子机制提供依据。
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如需具体文献，建议通过PubMed或Google Scholar搜索关键词 "HMBS antibody" 或联系所在机构图书馆获取全文。
The hydroxymethylbilane synthase (HMBS) antibody is a crucial tool in studying porphyrias, a group of metabolic disorders caused by defects in heme biosynthesis. HMBS, also known as porphobilinogen deaminase, is a mitochondrial enzyme encoded by the *HMBS* gene. It catalyzes the polymerization of four porphobilinogen molecules into hydroxymethylbilane, a key step in heme production. Mutations in *HMBS* lead to acute intermittent porphyria (AIP), the most common hepatic porphyria, characterized by enzymatic deficiency and neurovisceral symptoms.
HMBS antibodies are primarily used in research and diagnostics to detect and quantify HMBS protein expression. They help identify enzyme deficiencies in tissue samples, blood, or cultured cells, aiding AIP diagnosis and mechanistic studies. Commercial HMBS antibodies are typically raised in rabbits or mice using recombinant human HMBS protein or peptide epitopes. They are validated for techniques like Western blotting, immunohistochemistry, and ELISA.
Recent studies also utilize HMBS antibodies to investigate enzyme structure-function relationships, subcellular localization, and interactions with regulatory proteins. Cross-reactivity with HMBS orthologs in model organisms (e.g., mice) supports translational research. Challenges include distinguishing between wild-type and mutant forms of HMBS, which is critical for understanding genotype-phenotype correlations in porphyrias. Ongoing work focuses on improving antibody specificity and developing quantitative assays for clinical applications.
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