Coiled-coil domain-containing protein 136 (CCDC136)

Coiled-coil domain-containing protein 136 is a protein predominantly expressed in the testis, specifically within spermatids, where it is essential for the formation of the acrosome—a structure required for sperm function and fertilization. Knockout studies in mice demonstrate that the absence of CCDC136 leads to male infertility due to defects in acrosome assembly; protein levels are developmentally regulated and restricted to the testis. Although its function in human disease is still under investigation, genetic analyses have associated CCDC136 with reading disorder, dyscalculia, and modest cardiac phenotypes in large cohort studies, but its role as a clinical disease target remains unproven. There are currently no approved drugs or diagnostic biomarkers targeting CCDC136, and it is not classified as a receptor, enzyme, ion channel, transporter, or transcription factor.

Other names

KIAA1793NAG6DKFZP434G156Nasopharyngeal carcinoma-associated gene 6 proteincoiled-coil domain containing 136 protein, mouse