KHDC3L is a subcortical maternal complex (SCMC) component essential for early embryonic development 1. As part of the SCMC, it contributes to cytoplasmic lattice formation, which stores maternal proteins critical for embryonic development 1. KHDC3L regulates multiple cellular processes: it ensures proper spindle assembly by localizing AURKA and PLK1, and positions MAD2L1 at kinetochores for checkpoint function 1. KHDC3L facilitates homologous recombination DNA repair by recruiting RAD51 to double-strand breaks and sustaining PARP1 activity; phosphorylation of Thr145 and Thr156 by ATM is critical for these functions 2. Additionally, it promotes replication fork restart by recruiting BLM and TRIM25 to stalled forks 1. KHDC3L dysfunction causes genomic instability in early embryonic cells, leading to recurrent pregnancy loss (RPL) 2. Biallelic mutations in KHDC3L are associated with recurrent diploid biparental hydatidiform moles through maternal imprinting defects 34. Clinically, KHDC3L variants are recognized genetic markers for oocyte quality defects, early embryo arrest, and reproductive failure, making it relevant for genetic counseling in infertility cases 15.