人 CFAP53 抗体对
01AB01935
Cilia and flagella associated protein 53 (CFAP53) is a coiled-coil, microtubule-inner protein essential for the biogenesis and motility of cilia and flagella. Localizing to centriolar satellites and the axoneme, it regulates ciliary beating patterns by recruiting and stabilizing axonemal dynein and docking complex components, such as TTC25. CFAP53 interacts with partners including IFT88, CCDC42, and KIF3A to facilitate intraflagellar and intermanchette transport during spermiogenesis. Pathogenic loss of CFAP53 is a well-established cause of defective nodal cilia motility, leading to abnormal left-right patterning conditions such as situs inversus and heterotaxy. Furthermore, its deficiency is linked to severe sperm flagellar malformations and male infertility, characterizing its role in multiple morphological abnormalities of the sperm flagella phenotypes.
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技术参数
- 靶点基因名
- CFAP53
- 基因别名
- CCDC11
- 蛋白别名
- cilia and flagella associated protein 53; CFAP53
- UniProt
- Q96M91
- 物种
- Human
产品详情
- 靶点名称
- CFAP53
- 蛋白名称
- cilia and flagella associated protein 53
- 蛋白别名
- Cilia- and flagella-associated protein 53; Coiled-coil domain-containing protein 11
- 靶点基因名
- CFAP53
- 基因别名
- CCDC11
- UniProt
- Q96M91
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Cilia and flagella associated protein 53 (CFAP53) is a coiled-coil, microtubule-inner protein essential for the biogenesis and motility of cilia and flagella. Localizing to centriolar satellites and the axoneme, it regulates ciliary beating patterns by recruiting and stabilizing axonemal dynein and docking complex components, such as TTC25. CFAP53 interacts with partners including IFT88, CCDC42, and KIF3A to facilitate intraflagellar and intermanchette transport during spermiogenesis. Pathogenic loss of CFAP53 is a well-established cause of defective nodal cilia motility, leading to abnormal left-right patterning conditions such as situs inversus and heterotaxy. Furthermore, its deficiency is linked to severe sperm flagellar malformations and male infertility, characterizing its role in multiple morphological abnormalities of the sperm flagella phenotypes.