人 SYCP3 抗体对
01AB01854
Synaptonemal complex protein 3 (SYCP3) is a meiosis-specific structural protein that forms the lateral elements of the synaptonemal complex. It is essential for homologous chromosome synapsis, recombination, and proper segregation during meiotic prophase I. SYCP3 is required for normal spermatogenesis and centromere pairing in male germ cells, and it coordinates meiotic recombination checkpoints by facilitating the phosphorylation of HORMA-domain proteins such as HORMAD1 and HORMAD2. Clinically, pathogenic variants in the SYCP3 gene are a primary cause of Spermatogenic Failure 4, a condition characterized by non-obstructive azoospermia and meiotic arrest. In females, SYCP3 mutations are associated with recurrent pregnancy loss, likely due to defective meiosis and the production of aneuploid gametes. Additionally, ectopic expression of SYCP3 in various non-germline cancers has been linked to chromosomal instability.
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技术参数
- 靶点基因名
- SYCP3
- 基因别名
- SCP3
- 蛋白别名
- synaptonemal complex protein 3; SYCP3
- UniProt
- Q8IZU3
- 物种
- Human
产品详情
- 靶点名称
- SYCP3
- 蛋白名称
- synaptonemal complex protein 3
- 蛋白别名
- Synaptonemal complex protein 3; SCP-3
- 靶点基因名
- SYCP3
- 基因别名
- SCP3
- UniProt
- Q8IZU3
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Synaptonemal complex protein 3 (SYCP3) is a meiosis-specific structural protein that forms the lateral elements of the synaptonemal complex. It is essential for homologous chromosome synapsis, recombination, and proper segregation during meiotic prophase I. SYCP3 is required for normal spermatogenesis and centromere pairing in male germ cells, and it coordinates meiotic recombination checkpoints by facilitating the phosphorylation of HORMA-domain proteins such as HORMAD1 and HORMAD2. Clinically, pathogenic variants in the SYCP3 gene are a primary cause of Spermatogenic Failure 4, a condition characterized by non-obstructive azoospermia and meiotic arrest. In females, SYCP3 mutations are associated with recurrent pregnancy loss, likely due to defective meiosis and the production of aneuploid gametes. Additionally, ectopic expression of SYCP3 in various non-germline cancers has been linked to chromosomal instability.