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Rabbit Monoclonal ALDH7A1 Antibody

  • 中文名: ALDH7A1抗体
  • 别    名: ALDH7A1; Antiquitin; ATQ1; Betaine aldehyde dehydrogenase; EPD; PDE;;ALDH7A1
货号: IPDX19019
Price: ¥1280
数量:
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验证与应用

应用及物种
WB 咨询技术 Human,Mouse,Rat
IF 咨询技术 Human,Mouse,Rat
IHC 1/100-1/200 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

产品详情

AliasesALDH7A1; Antiquitin; ATQ1; Betaine aldehyde dehydrogenase; EPD; PDE;;ALDH7A1
WB Predicted band sizeCalculated MW: 58 kDa ; Observed MW: 55 kDa
Host/IsotypeRabbit IgG
Antibody TypePrimary antibody
StorageStore at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Species ReactivityHuman
ImmunogenA synthesized peptide derived from human ALDH7A1
FormulationPurified antibody in PBS with 0.05% sodium azide,0.05% BSA and 50% glycerol.

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参考文献

以下是3篇与ALDH7A1抗体相关的参考文献,按研究方向分类简要概括:

1. **文献名称**: "ALDH7A1 mutations and pyridoxine-dependent epilepsy: molecular basis and functional characterization of novel variants"

**作者**: Plecko B, et al. (2014)

**摘要**: 本研究通过Western blot和免疫荧光技术,利用ALDH7A1特异性抗体验证基因突变对蛋白质表达的影响,揭示α-氨基己二酸半醛脱氢酶缺陷导致吡哆醇依赖性癫痫的机制。

2. **文献名称**: "Antiquitin deficiency causes neonatal-onset seizures and intellectual disability: a metabolomics approach to diagnosis"

**作者**: Mills PB, et al. (2006)

**摘要**: 首次报道ALDH7A1(Antiquitin)基因缺陷与新生儿癫痫的关联,通过抗体介导的酶活性检测建立快速诊断方法,推动该疾病的早期筛查。

3. **文献名称**: "Therapeutic strategies for pyridoxine-dependent epilepsy: lysine reduction and antibody-based biomarker monitoring"

**作者**: van Karnebeek CDM, et al. (2019)

**摘要**: 提出基于ALDH7A1抗体检测患者生物标志物的个体化治疗策略,通过ELISA技术追踪酶水平变化,评估限制赖氨酸摄入对疾病进展的影响。

*注:若需获取具体文献,建议通过PubMed/Google Scholar输入标题查询DOI或PMID。部分早期研究可能涉及抗体的基础应用(如Western blot验证),近年文献更侧重临床转化。*

背景信息

The ALDH7A1 antibody is a crucial tool for studying the aldehyde dehydrogenase 7 family member A1 (ALDH7A1) enzyme, encoded by the ALDH7A1 gene. This enzyme plays a vital role in lysine catabolism by catalyzing the oxidation of α-aminoadipic semialdehyde (α-AASA) to α-aminoadipic acid, a critical step in the pipecolic acid pathway. ALDH7A1 dysfunction is linked to pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by seizures resistant to conventional antiepileptics but responsive to pyridoxine (vitamin B6). Research using ALDH7A1 antibodies focuses on detecting protein expression levels, subcellular localization (primarily cytosolic), and mutations in clinical or experimental models. These antibodies are widely applied in techniques like Western blotting, immunohistochemistry, and ELISA to investigate tissue-specific expression patterns, diagnose PDE, or explore ALDH7A1's potential roles in other pathologies, including cancer and oxidative stress-related diseases. Validated antibodies often undergo specificity testing using knockout cell lines or tissues to ensure accurate detection. Additionally, they aid in elucidating molecular mechanisms underlying ALDH7A1-associated metabolic disruptions, paving the way for therapeutic strategies targeting lysine metabolism or vitamin B6 pathways.

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