Description
Synaptonemal complex protein 3, also known as COR1 or SCP3, is in humans is encoded by the SYCP3 gene. This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. SYCP3 has an essential meiotic function in human spermatogenesis that is compromised by the mutant protein by dominant-negative interference. SYCP3 is linked to inherited aneuploidy in female germ cells and provides a model system for studying age-dependent degeneration in oocytes