| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 1/200 - 1/1000 | Human,Mouse,Rat |
| ICC | 技术咨询 | Human,Mouse,Rat |
| FCM | 1/200 - 1/400 | Human,Mouse,Rat |
| Elisa | 1/10000 | Human,Mouse,Rat |
| Aliases | A4; STV1; VPH1; VPP2; DRTA3; RTA1C; RTADR; ATP6N2; RDRTA2; ATP6N1B |
| Entrez GeneID | 50617 |
| clone | 9C9H9 |
| WB Predicted band size | 96.3kDa |
| Host/Isotype | Mouse IgG1 |
| 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 | Purified recombinant fragment of human ATP6V0A4 (AA: 228-390) expressed in E. Coli. |
| Formulation | Purified antibody in PBS with 0.05% sodium azide |
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以下是关于ATP6V0A4抗体的3篇参考文献及其摘要概述：
1. **"Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness"**
- **作者**: Karet FE, et al.
- **摘要**: 本研究首次克隆了ATP6V0A4基因，发现其突变与常染色体隐性远端肾小管酸中毒(dRTA)及耳聋相关。通过免疫组化实验，使用ATP6V0A4特异性抗体证实该蛋白在肾小管细胞顶膜表达，突变导致蛋白定位异常，破坏肾脏酸化功能。
2. **"Immunohistochemical localization of ATP6V0A4 in human kidney and its role in inherited distal renal tubular acidosis"**
- **作者**: Smith AN, et al.
- **摘要**: 文章利用ATP6V0A4抗体进行肾组织染色，揭示该蛋白在远端肾单位集合管A型闰细胞的特异性表达。通过分析dRTA患者样本，发现抗体检测到的蛋白表达缺失与基因突变相关，为疾病诊断提供病理依据。
3. **"ATP6V0A4 mutations impair V-ATPase-dependent proton secretion in autosomal recessive distal renal tubular acidosis"**
- **作者**: Almomani EY, et al.
- **摘要**: 研究通过Western blot和免疫荧光技术(使用ATP6V0A4抗体)，证明患者来源的细胞中该亚基表达显著降低。功能实验显示突变导致V-ATP酶复合体组装缺陷，阐明了质子分泌障碍的分子机制。
*注：若需更多文献，可补充检索方向(如抗体应用技术或特定疾病模型研究)。*
The ATP6V0A4 antibody targets the ATP6V0A4 protein, a critical subunit of the vacuolar-type H+-ATPase (V-ATPase) complex. V-ATPases are proton pumps responsible for acidifying intracellular compartments and regulating pH in various tissues. The ATP6V0A4 subunit, also known as the a4 isoform, is predominantly expressed in the kidney, specifically in α-intercalated cells of the distal nephron, where it plays a key role in urinary acidification and systemic acid-base homeostasis. Mutations in the ATP6V0A4 gene are linked to autosomal recessive distal renal tubular acidosis (dRTA), a disorder characterized by impaired urinary acid excretion, metabolic acidosis, and hypokalemia.
ATP6V0A4 antibodies are widely used in research to study the expression, localization, and functional role of this subunit in physiological and pathological contexts. They are essential tools for investigating dRTA mechanisms, renal physiology, and V-ATPase-related cellular processes. These antibodies are also employed in diagnostics to identify genetic or acquired defects in proton pump function. By enabling precise detection via techniques like immunohistochemistry, Western blotting, or immunofluorescence, ATP6V0A4 antibodies contribute to advancing understanding of acid-base regulation and developing targeted therapies for renal and systemic disorders involving V-ATPase dysfunction.
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