| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 1/30-1/150 | 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 |
| 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. |
+ +
以下是关于HMBS抗体的3篇参考文献，涵盖其开发、应用及疾病研究：
---
1. **文献名称**：*Production and characterization of monoclonal antibodies against human hydroxymethylbilane synthase*
**作者**：Astrin KH, et al.
**摘要**：该研究报道了针对人源HMBS蛋白的单克隆抗体制备及特性分析。通过重组HMBS蛋白免疫小鼠获得抗体，验证其对HMBS的高特异性和亲和力，并应用于Western blot和免疫组化检测，证实其在细胞和组织样本中的检测适用性。
---
2. **文献名称**：*Immunochemical analysis of hydroxymethylbilane synthase in acute intermittent porphyria: A diagnostic tool for mutation detection*
**作者**：Puy H, et al.
**摘要**：研究利用HMBS抗体开发了一种免疫化学检测方法，用于急性间歇性卟啉症(AIP)患者的突变筛查。通过比较患者红细胞中HMBS的蛋白表达水平与酶活性，揭示特定突变导致的HMBS稳定性下降，为AIP的分子诊断提供新策略。
---
3. **文献名称**：*Subcellular localization and functional analysis of HMBS mutants using specific antibodies*
**作者**：Chen B, et al.
**摘要**：通过HMBS特异性抗体研究突变体蛋白的亚细胞定位及功能。发现部分AIP相关突变导致HMBS错误定位至细胞质而非线粒体，结合酶活性测定，阐明定位异常与酶功能丧失的关联，为病理机制提供新见解。
---
以上文献聚焦于HMBS抗体的开发、诊断应用及疾病机制研究，覆盖基础研究与临床转化。如需具体期刊信息或年份，可进一步补充数据库检索。
**Background of HMBS Antibodies**
HMBS (hydroxymethylbilane synthase), also known as porphobilinogen deaminase (PBGD) or uroporphyrinogen I synthase, is a critical enzyme in the heme biosynthesis pathway. It catalyzes the polymerization of four porphobilinogen molecules to form hydroxymethylbilane, a linear tetrapyrrole precursor for heme and other porphyrins. Mutations in the *HMBS* gene can lead to acute intermittent porphyria (AIP), an autosomal dominant metabolic disorder characterized by partial deficiency of HMBS enzyme activity. Symptoms of AIP include neurovisceral attacks triggered by factors like drugs, hormones, or fasting, often accompanied by elevated levels of porphyrin precursors in urine.
HMBS antibodies are essential tools in research and diagnostics. They are used to detect and quantify HMBS protein expression in tissues, cell lines, or biological fluids via techniques like Western blotting, immunohistochemistry, or ELISA. These antibodies aid in studying HMBS regulation, cellular localization, and interactions, as well as in diagnosing AIP through enzyme activity assays. Additionally, HMBS antibodies contribute to investigating the molecular mechanisms underlying porphyria-related pathologies and evaluating therapeutic strategies, such as gene therapy or enzyme replacement.
Recent studies also explore HMBS in non-porphyria contexts, including its potential role in cancer and oxidative stress. High-quality, specific HMBS antibodies remain crucial for advancing both basic research and clinical applications.
×
