抗人 CFAP418 抗体对
01AB00764
Cilia and flagella associated protein 418 (CFAP418) is a ubiquitously expressed protein with high mRNA levels in the brain, heart, and retina, and is predicted to localize primarily in the cytoplasm and cytosol, including photoreceptor inner segments where it may play a role in photoreceptor cell morphogenesis. CFAP418 is implicated in processes such as Kupffer's vesicle development and melanosome transport, suggesting a role in ciliary and flagellar structure or function. Expression data indicate its presence across multiple tissues, particularly those with specialized ciliary structures, supporting its involvement in ciliary biology. Clinically, mutations in the human CFAP418 gene have been associated with Bardet-Biedl syndrome 21 and cone-rod dystrophy 16, linking its dysfunction to ciliopathies and retinal degeneration.
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技术参数
- 靶点基因名
- CFAP418
- 基因别名
- C8orf37; smalltalk
- 蛋白别名
- cilia and flagella associated protein 418; CFAP418
- UniProt
- Q96NL8
- 物种
- Human
产品详情
- 靶点名称
- CFAP418
- 蛋白名称
- cilia and flagella associated protein 418
- 蛋白别名
- Cilia- and flagella-associated protein 418
- 靶点基因名
- CFAP418
- 基因别名
- C8orf37; smalltalk
- UniProt
- Q96NL8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Cilia and flagella associated protein 418 (CFAP418) is a ubiquitously expressed protein with high mRNA levels in the brain, heart, and retina, and is predicted to localize primarily in the cytoplasm and cytosol, including photoreceptor inner segments where it may play a role in photoreceptor cell morphogenesis. CFAP418 is implicated in processes such as Kupffer's vesicle development and melanosome transport, suggesting a role in ciliary and flagellar structure or function. Expression data indicate its presence across multiple tissues, particularly those with specialized ciliary structures, supporting its involvement in ciliary biology. Clinically, mutations in the human CFAP418 gene have been associated with Bardet-Biedl syndrome 21 and cone-rod dystrophy 16, linking its dysfunction to ciliopathies and retinal degeneration.