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. [provided by RefSeq, May 2010],
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Function:
Disease:Defects in SYCP3 are associated with azoospermia due to perturbations of meiosis [MIM:270960].,Function:Component of the transverse filaments of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Has an essential meiotic function in spermatogenesis. May be important for testis development.,similarity:Belongs to the XLR/SYCP3 family.,subcellular location:In tripartite segments of synaptonemal complexes, irrespective of whether these are synapsed or unsynapsed.,subunit:Interacts with SYCP2.,tissue specificity:Testis-specific.,
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Cellular Localization:
Nucleus . Chromosome . Chromosome, centromere . It is present in early unpaired cores, in the lateral domains of the synaptonemal complex and in the chromosome cores when they separate at diplotene. It is found axial to the metaphase I chromosomes and in association with pairs of sister centromeres. The centromere-associated protein becomes dissociated from the centromeres at anaphase II and is not found in mitotic metaphase centromeres. .