Coiled-coil domain-containing protein 40 (CCDC40)

CCDC40 is a large protein (over 1,100 amino acids) encoded on human chromosome 17[2]. It contains extensive coiled-coil domains essential for the structural regulation of motile cilia. The protein is specifically expressed in tissues rich in motile cilia, such as the respiratory tract and reproductive system[8]. Its primary role is to facilitate proper assembly of the inner dynein arms and dynein regulatory complexes within the axoneme, the core skeletal structure of cilia and flagella[1][2][3][4][5]. Defective CCDC40 leads to loss of ciliary movement, contributing to disorders such as primary ciliary dyskinesia, abnormal organ positioning (situs inversus), and male infertility via sperm flagella dysmotility[1][2][4][5]. The function and disease relevance of CCDC40 are highly conserved across vertebrate species[3][5]. No direct therapeutic modulation of CCDC40 is available; clinical management relies on symptomatic relief and genetic counseling for affected families[4].

Other names

CCDC40coiled-coil protein CCDC40PCD15 protein