Coiled-coil domain-containing protein 157 (CCDC157)

Coiled-coil domain-containing protein 157 (CCDC157) is a testis-enriched protein that is essential for normal sperm differentiation and male fertility in mammals[1][4]. It contains two conserved domains: the SMC_N superfamily domain and the APC_basic domain, which are involved in molecular recognition and protein refolding[1][5]. CCDC157 is expressed at high levels in the testis in both humans and mice, with a role in the organization of the Golgi apparatus and acrosome biogenesis during spermatogenesis[1][5]. Mutations or deletions in this gene are associated with oligoasthenoteratozoospermia and male infertility, as shown in both human association studies and mouse knockouts[1][4][5]. CCDC157 dysfunction results in abnormal sperm morphology, reduced sperm motility, and defective acrosome formation[1]. There is no evidence that CCDC157 is a receptor, enzyme, ion channel, transporter, or has been directly implicated as a therapeutic target, and no interacting drugs or mechanisms of action are reported[1][4][5]. Its main characterized clinical link is to certain forms of male infertility.

Other names

CCDC157KIAA1656coiled-coil domain containing 157