人 PDE6C 抗体对
01AB00556
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.
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技术参数
- 靶点基因名
- PDE6C
- 基因别名
- PDEA2
- 蛋白别名
- phosphodiesterase 6C; PDE6C
- UniProt
- P51160
- 物种
- Human
产品详情
- 靶点名称
- PDE6C
- 蛋白名称
- phosphodiesterase 6C
- 蛋白别名
- Cone cGMP-specific 3'; 5'-cyclic phosphodiesterase subunit alpha'; cGMP phosphodiesterase 6C
- 靶点基因名
- PDE6C
- 基因别名
- PDEA2
- UniProt
- P51160
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.