Overview
| 别名 | Cone cGMP-specific 3'; 5'-cyclic phosphodiesterase subunit alpha'; cGMP phosphodiesterase 6C |
| 基因名 | PDE6C |
| UniProt ID | P51160 |
| 反应种属 | Human |
| 应用 | IHC-P |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG2a |
| 克隆号 | 6R7-U2-V5 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 99 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | IHC-1:100-1:200 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | Phosphodiesterase 6C (PDE6C) is a crucial enzyme encoded by the PDE6C gene, specifically functioning as the alpha-prime subunit of cone-specific phosphodiesterase in photoreceptor cells of the retina. PDE6C is composed of a homodimer of alpha-prime subunits and is regulated by smaller proteins, highlighting its complex structural properties essential for its enzymatic function. This enzyme plays a vital role in the phototransduction pathway by hydrolyzing cyclic guanosine monophosphate (cGMP), thereby regulating visual signal transmission in bright light conditions and contributing to color vision. Mutations in the PDE6C gene are primarily associated with achromatopsia, a genetic condition characterized by a complete lack of color vision, and cone dystrophy type 4 (COD4), which leads to progressive vision loss and impaired visual acuity. The enzyme's dysfunction due to these mutations results in disrupted phototransduction, leading to symptoms such as photophobia and nystagmus. |
检测原理