人 CFAP70 抗体对
01AB02059
Cilia and flagella associated protein 70 (CFAP70) is a coiled-coil, axoneme-binding protein localized to the ciliary basal body and sperm flagellum. It functions as a key regulator of ciliary motility and length by associating with the base of the outer dynein arm within the "9+2" microtubule arrangement of motile cilia. CFAP70 is essential for proper cilium assembly, spermatid development, and the maintenance of ciliated tissue integrity, particularly in the testis and respiratory epithelium. Clinically, pathogenic biallelic variants in CFAP70 are a known cause of autosomal recessive spermatogenic failure 41. This condition is characterized by severe asthenozoospermia and impaired sperm motility, leading to non-syndromic male infertility. Its role in the structural and regulatory machinery of motile flagella makes it a critical factor in reproductive health and the physiology of ciliated cells.
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技术参数
- 靶点基因名
- CFAP70
- 基因别名
- TTC18
- 蛋白别名
- cilia and flagella associated protein 70; CFAP70
- UniProt
- Q5T0N1
- 物种
- Human
产品详情
- 靶点名称
- CFAP70
- 蛋白名称
- cilia and flagella associated protein 70
- 蛋白别名
- Cilia- and flagella-associated protein 70; Tetratricopeptide repeat protein 18; TPR repeat protein 18
- 靶点基因名
- CFAP70
- 基因别名
- TTC18
- UniProt
- Q5T0N1
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Cilia and flagella associated protein 70 (CFAP70) is a coiled-coil, axoneme-binding protein localized to the ciliary basal body and sperm flagellum. It functions as a key regulator of ciliary motility and length by associating with the base of the outer dynein arm within the "9+2" microtubule arrangement of motile cilia. CFAP70 is essential for proper cilium assembly, spermatid development, and the maintenance of ciliated tissue integrity, particularly in the testis and respiratory epithelium. Clinically, pathogenic biallelic variants in CFAP70 are a known cause of autosomal recessive spermatogenic failure 41. This condition is characterized by severe asthenozoospermia and impaired sperm motility, leading to non-syndromic male infertility. Its role in the structural and regulatory machinery of motile flagella makes it a critical factor in reproductive health and the physiology of ciliated cells.