Coiled-coil domain-containing protein 188 (CCDC188)

Coiled-coil domain-containing protein 188 (CCDC188) is a human protein encoded by the CCDC188 gene located on chromosome 22q11.21[1]. CCDC188 is a coiled-coil domain family member, producing several isoforms, and is predominantly expressed in testis and pituitary tissue[1][5]. Its protein contains a leucine zipper and a transmembrane domain, suggesting tight regulation and a possible membrane-associated precursor state before its activation[1]. CCDC188 localizes specifically to the head-to-tail coupling apparatus (HTCA) of sperm in both humans and mice[3][5]. It plays a crucial role in anchoring the sperm head to the neck during spermatogenesis; loss-of-function mutations in humans and knockout studies in mice cause acephalic spermatozoa syndrome, characterized by sperm with separated heads and tails and resulting in male infertility[3][5]. CCDC188 interacts physically with known HTCA proteins SUN5 and PMFBP1, appearing to function as a linker required for the interface between these molecules[5]. There is no current evidence supporting CCDC188 as a druggable therapeutic target, nor any known interacting drugs or associated mechanism of drug action. Its primary known clinical implication is as a genetic determinant or possible biomarker for certain forms of genetic male infertility[5]. There are no documented safety or toxicity concerns for CCDC188 inhibition or manipulation in a therapeutic context, as it is not the subject of current drug development efforts.

Other names

Coiled-coil domain containing protein 188CCDC188