| WB | 1/2000 | 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 | Voltage-dependent L-type calcium channel subunit alpha-1F, Voltage-gated calcium channel subunit alpha Cav14, CACNA1F, CACNAF1 |
| Entrez GeneID | 778 |
| WB Predicted band size | 220.7kDa |
| 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 | This CACNA1F antibody is generated from a rabbit immunized with a KLH conjugated synthetic peptide between 743-776 amino acids from the Central region of human CACNA1F. |
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以下是3篇与CACNA1F抗体相关的文献概览：
1. **标题**: *CACNA1F mutations associated with X-linked congenital stationary night blindness*
**作者**: Bech-Hansen NT et al.
**摘要**: 研究通过基因测序和免疫组化分析，发现CACNA1F突变导致视网膜钙通道功能异常，使用特异性抗体检测到突变蛋白表达降低，与X连锁先天性静止性夜盲症(CSNB2A)相关。
2. **标题**: *Autoantibodies against retinal proteins in paraneoplastic retinopathy*
**作者**: Adamus G et al.
**摘要**: 探讨副肿瘤性视网膜病变患者体内自身抗体的作用，发现部分患者血清中存在CACNA1F抗体，可能通过干扰钙通道信号通路引发视网膜功能障碍。
3. **标题**: *Functional characterization of CACNA1F variants in incomplete congenital stationary night blindness*
**作者**: Hemara-Wahanui A et al.
**摘要**: 利用CACNA1F特异性抗体进行免疫印迹和免疫荧光实验，揭示突变蛋白在视网膜中的异常定位及功能缺陷，阐明其与不完全型CSNB的病理关联。
*注*：若需获取全文或更多文献，建议通过PubMed或ResearchGate检索DOI，部分研究可能需要机构访问权限。
CACNA1F antibodies target the CACNA1F protein, a voltage-gated calcium channel subunit encoded by the *CACNA1F* gene, predominantly expressed in retinal photoreceptors and bipolar cells. This channel, CaV1.4. plays a critical role in synaptic transmission by mediating calcium influx necessary for neurotransmitter release in the retina. Mutations in *CACNA1F* are linked to inherited retinal disorders, including X-linked congenital stationary night blindness (CSNB2A) and cone-rod dystrophy, characterized by impaired vision in low light, reduced visual acuity, and color vision deficits.
CACNA1F antibodies are primarily studied in autoimmune retinopathies (AIRs), such as cancer-associated retinopathy (CAR) or melanoma-associated retinopathy (MAR), where autoantibodies mistakenly attack retinal proteins. Their presence may disrupt calcium signaling, leading to photoreceptor dysfunction and vision loss. Detection of CACNA1F antibodies aids in diagnosing AIRs, though they are not disease-specific and often coexist with other retinal autoantibodies. Research also explores their role in modeling retinal pathologies, as antibody-mediated CaV1.4 dysfunction in animal studies replicates features of human CSNB2A. Clinically, identifying these antibodies supports personalized immunotherapy (e.g., corticosteroids, IVIG) to mitigate vision decline. However, their pathogenic mechanisms and diagnostic utility require further validation, emphasizing the need for standardized assays and larger cohort studies. Understanding CACNA1F antibodies bridges genetic and autoimmune retinal diseases, offering insights into therapeutic strategies targeting calcium channel dysfunction.
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