| WB | 1/500-1/2000 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 1/25-1/100 | Human,Mouse,Rat |
| ICC | 技术咨询 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 1/2000-1/5000 | Human,Mouse,Rat |
| Aliases | RD; LN1; PAHX; LNAP1; PHYH1 |
| 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 |
| Immunogen | Fusion protein of human PHYH |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
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以下是关于PHYH抗体的3篇参考文献，涵盖其功能、疾病关联及实验应用：
1. **文献名称**：*Phytanoyl-CoA hydroxylase deficiency—the enzyme defect in Refsum's disease*
**作者**：Jansen, G.A., et al.
**摘要**：该研究首次明确PHYH(植烷酰-CoA羟化酶)缺陷是Refsum病的致病原因，通过患者细胞实验证实PHYH酶活性缺失，并利用特异性抗体检测其蛋白表达异常。
2. **文献名称**：*Identification of PAHX as a Refsum disease gene by combined analysis of homozygosity mapping and metabolic function*
**作者**：Ferdinandusse, S., et al.
**摘要**：通过基因定位和功能分析，验证PHYH(PAHX)基因突变导致Refsum病，研究中使用抗体验证突变对蛋白稳定性的影响，揭示酶活性丧失机制。
3. **文献名称**：*Phytanoyl-CoA α-hydroxylase is not essential for degradation of phytanic acid in mice*
**作者**：Mihalik, S.J., et al.
**摘要**：通过PHYH基因敲除小鼠模型，探究植烷酸代谢途径，利用抗体检测PHYH蛋白缺失，发现其他代偿途径可能参与植烷酸降解。
4. **文献名称**：*Metabolic aspects of peroxisomal disorders in fatty acid β-oxidation*
**作者**：Wanders, R.J.A., et al.
**摘要**：综述中讨论PHYH在过氧化物酶体脂肪酸氧化中的作用，强调抗体的应用在疾病诊断中的作用，如Western blot和免疫荧光分析患者样本。
以上文献均涉及PHYH抗体在疾病机制、酶功能验证及诊断中的关键应用。
The PHYH antibody targets the phytanoyl-CoA hydroxylase (PHYH) enzyme, encoded by the PHYH gene, which plays a critical role in lipid metabolism within peroxisomes. PHYH catalyzes the alpha-hydroxylation of phytanoyl-CoA, a key step in the breakdown of phytanic acid, a branched-chain fatty acid derived from dietary sources. Mutations in PHYH are linked to Refsum disease, a rare autosomal recessive disorder characterized by phytanic acid accumulation, leading to neurological, visual, and cardiac impairments.
PHYH antibodies are essential tools in studying peroxisomal disorders, particularly Refsum disease. They enable detection and quantification of PHYH protein expression in tissues or cell cultures, aiding in diagnostic assays and mechanistic research. These antibodies are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to assess PHYH localization, expression levels, and potential dysfunction in disease models.
Additionally, PHYH antibodies contribute to understanding broader peroxisomal functions, including fatty acid alpha-oxidation pathways and their interplay with cellular metabolism. Their specificity and validation (e.g., knockout controls) ensure reliability in both basic research and clinical applications. By elucidating PHYH's role in health and disease, these antibodies support therapeutic development and biomarker discovery for peroxisome-related disorders.
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