| WB | 咨询技术 | 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 | 1/1000-1/2000 | Human,Mouse,Rat |
| Aliases | FXIIIB |
| 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 |
| Immunogen | Synthetic peptide of human F13B |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
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以下是3篇与PHKA2抗体相关的文献摘要概览：
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1. **文献名称**: "Mutations in the liver glycogen phosphorylase kinase (PHKA2) gene in patients with glycogen storage disease type IXa"
**作者**: Hendrickx J. et al.
**摘要**: 本研究利用PHKA2特异性抗体对GSD IXa患者肝组织进行Western blot分析，发现PHKA2蛋白表达显著降低或缺失，证实PHKA2基因突变导致蛋白功能缺陷，进而引发糖原代谢异常。
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2. **文献名称**: "Immunological characterization of human liver phosphorylase kinase subunit isoforms"
**作者**: Burwinkel B. et al.
**摘要**: 通过制备针对PHKA2亚基的单克隆抗体，研究者揭示了PHKA2在肝脏中的表达模式及其与磷酸化酶激酶复合物的相互作用，为GSD IX型的分子诊断提供了关键工具。
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3. **文献名称**: "Targeted disruption of the liver phosphorylase kinase subunit PHKA2 in mice results in metabolic dysregulation"
**作者**: Maichele A.J. et al.
**摘要**: 利用PHKA2抗体检测基因敲除小鼠模型，发现PHKA2缺失导致肝糖原异常堆积及磷酸化酶激酶活性丧失，证实其在糖原分解中的核心作用。
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这些文献均通过PHKA2抗体开展蛋白功能或疾病机制研究，涵盖临床诊断与基础科学领域。如需具体年份或期刊信息，可进一步补充检索。
PHKA2 (phosphorylase kinase subunit alpha 2) is a critical component of the phosphorylase kinase (PhK) enzyme complex, which regulates glycogen metabolism by activating glycogen phosphorylase. This enzyme plays a key role in the breakdown of glycogen to glucose-1-phosphate, a process vital for maintaining energy homeostasis, particularly in liver and muscle tissues. The PHKA2 gene, located on the X chromosome (Xp22.2-p22.1), encodes the alpha subunit of PhK, serving as a regulatory element that modulates the enzyme’s activity through calcium and phosphorylation-dependent mechanisms.
Mutations in PHKA2 are linked to X-linked liver glycogen storage disease type IXa (GSD IXa), a rare inherited disorder characterized by hepatomegaly, growth retardation, and fasting hypoglycemia due to impaired glycogenolysis. PHKA2 antibodies are essential tools in research and diagnostics, enabling the detection of PHKA2 protein expression, localization, and functional studies. These antibodies aid in elucidating molecular mechanisms underlying GSD IXa, assessing mutation impacts on protein stability or activity, and developing targeted therapies. Commercial PHKA2 antibodies are typically developed using immunogenic peptides or recombinant proteins, validated for applications like Western blotting, immunohistochemistry, and immunofluorescence. Understanding PHKA2’s role through antibody-based studies contributes to advancing metabolic disease research and precision medicine approaches.
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