| 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 | 咨询技术 | Human,Mouse,Rat |
| Aliases | Phosphate-regulating neutral endopeptidase, 3424-, Metalloendopeptidase homolog PEX, Vitamin D-resistant hypophosphatemic rickets protein, X-linked hypophosphatemia protein, HYP, PHEX, PEX |
| Entrez GeneID | 5251 |
| WB Predicted band size | 86.5kDa |
| 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 | This PHEX antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 567-595 amino acids from the C-terminal region of human PHEX. |
| Formulation | Purified antibody in PBS with 0.05% sodium azide. |
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以下是关于PHEX抗体的3篇代表性文献及其摘要：
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1. **文献名称**: *"PHEX gene mutations and protein localization in X-linked hypophosphatemic rickets"*
**作者**: Beck L., Soumounou Y., Tenenhouse H.S.
**摘要**: 本研究首次克隆了PHEX基因，并开发了特异性抗体用于检测PHEX蛋白在成骨细胞和骨细胞中的表达。通过免疫组化分析，揭示了PHEX突变导致X连锁低磷血症(XLH)患者中蛋白功能异常的机制，为理解XLH的病理生理学提供了关键证据。
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2. **文献名称**: *"Mutation analysis of PHEX gene in X-linked hypophosphatemia"*
**作者**: Francis F., Rowe P.S.N., Econs M.J.
**摘要**: 研究通过Western blot和免疫荧光技术，利用抗PHEX抗体检测患者成骨细胞中PHEX蛋白的表达缺失或截断，证实了PHEX基因突变与XLH的直接关联。文章还讨论了抗体在临床诊断和功能研究中的应用潜力。
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3. **文献名称**: *"Comparative analysis of PHEX mutations and protein stability in hypophosphatemic disorders"*
**作者**: Sabbagh Y., Boileau G., Campos M.
**摘要**: 通过构建PHEX突变体并利用特异性抗体进行蛋白稳定性分析，发现部分错义突变导致PHEX蛋白错误折叠和降解。该研究强调了抗体在评估突变对蛋白功能影响中的重要性，并为靶向治疗提供了实验依据。
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4. **文献名称**: *"PHEX-dependent regulation of mineralization in bone development"*
**作者**: Follet H., Vico L., Bouvard B.
**摘要**: 使用PHEX抗体研究敲除小鼠模型，发现PHEX通过调节FGF23和骨基质蛋白(如DMP1)参与骨矿化调控。免疫组化显示PHEX缺失导致骨基质矿化缺陷，揭示了其在维持磷代谢平衡中的核心作用。
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以上文献涵盖了PHEX抗体的开发、疾病机制研究及实验应用，可作为相关领域的基础参考资料。如需具体期刊信息或发表年份，可进一步补充数据库检索。
The PHEX (Phosphate-Regulating Endopeptidase Homolog X-linked) antibody is a tool used to study the PHEX protein, encoded by the *PHEX* gene located on the X chromosome. PHEX is a membrane-bound metalloprotease predominantly expressed in osteoblasts, osteocytes, and odontoblasts, where it plays a critical role in regulating phosphate homeostasis and mineralization of bone and teeth. Mutations in *PHEX* are linked to X-linked hypophosphatemia (XLH), a genetic disorder characterized by renal phosphate wasting, hypophosphatemia, and defective skeletal mineralization, leading to rickets or osteomalacia. The PHEX protein is thought to modulate fibroblast growth factor 23 (FGF23), a hormone that reduces renal phosphate reabsorption. In XLH, loss-of-function mutations in *PHEX* result in elevated FGF23 levels, driving disease pathology.
PHEX antibodies are essential in research to detect protein expression, localization, and interactions in cellular and tissue models. They aid in elucidating mechanisms underlying XLH and potential therapies, such as anti-FGF23 monoclonal antibodies. These antibodies are validated for techniques like immunohistochemistry, Western blotting, and immunofluorescence, enabling insights into PHEX's role in bone metabolism and its dysregulation in diseases. Continued research using PHEX antibodies contributes to understanding broader pathways in mineral homeostasis and developing targeted treatments for metabolic bone disorders.
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