SYCE3 is a protein-coding gene that plays a significant role in the formation and stabilization of the synaptonemal complex. It is a major component of the transverse central element of synaptonemal complexes (SCS), which are formed between homologous chromosomes during meiotic prophase . The protein is required for chromosome loading of the central element-specific SCS proteins and for initiating synapsis between homologous chromosomes .
The synaptonemal complex is essential for the proper recombination and segregation of meiotic chromosomes. Defects in the assembly of the synaptonemal complex or in the function of associated meiotic recombination machinery can lead to meiotic arrest and human infertility . SYCE3 is required for fertility, and its proper function is crucial for the successful completion of meiosis .
The SYCE3 gene is located on chromosome 22 and is highly expressed in the testis . It is involved in pathways related to meiosis and the cell cycle, particularly during the mitotic phase . Mutations in this gene have been associated with various disorders, including Cutis Laxa, Autosomal Recessive, Type IId, and Loeys-Dietz Syndrome 4 .
Research on SYCE3 and the synaptonemal complex has significant implications for understanding human fertility and the genetic basis of infertility. Aberrant expression and malfunctioning of these genes have also been associated with cancer development . Understanding the role of SYCE3 in meiosis can provide insights into potential therapeutic targets for treating infertility and related disorders.