Structural highlights
Disease
SYCP3_HUMAN Male infertility with normal virilization due to meiosis defect. The disease is caused by mutations affecting the gene represented in this entry.
Function
SYCP3_HUMAN 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. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity).[1]
References
- ↑ Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet. 2003 Nov 22;362(9397):1714-9. PMID:14643120 doi:http://dx.doi.org/S0140-6736(03)14845-3