人 SMC3 抗体对
01AB03169
Structural maintenance of chromosomes 3 (SMC3) is a core component of the cohesin complex, which is essential for chromosome cohesion during the cell cycle, ensuring proper chromosome segregation, DNA repair, and chromosome condensation. SMC3 is characterized by a conserved domain structure, including N- and C-terminal ATPase domains, coiled-coil regions, and a hinge domain that allows it to form a V-shaped heterodimer with SMC1; together with RAD21 and SA1/SA2, this forms a ring-like structure that entraps DNA and maintains sister chromatid cohesion. SMC3 is acetylated during DNA replication, stabilizing cohesin on chromosomes, and also participates in meiosis by forming complexes that mediate cohesion between homologous chromosomes. Pathogenic variants in the SMC3 gene are linked to Cornelia de Lange syndrome, a developmental disorder characterized by growth delays, intellectual disability, and distinctive facial features, with at least 15 disease-causing mutations identified to date.
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技术参数
- 靶点基因名
- SMC3
- 基因别名
- BAM; BMH; CSPG6; SMC3L1
- 蛋白别名
- structural maintenance of chromosomes 3; SMC3
- UniProt
- Q9UQE7
- 物种
- Human
产品详情
- 靶点名称
- SMC3
- 蛋白名称
- structural maintenance of chromosomes 3
- 蛋白别名
- Structural maintenance of chromosomes protein 3; SMC protein 3; SMC-3; Basement membrane-associated chondroitin proteoglycan; Bamacan; Chondroitin sulfate proteoglycan 6; Chromosome-associated polypeptide; hCAP
- 靶点基因名
- SMC3
- 基因别名
- BAM; BMH; CSPG6; SMC3L1
- UniProt
- Q9UQE7
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Structural maintenance of chromosomes 3 (SMC3) is a core component of the cohesin complex, which is essential for chromosome cohesion during the cell cycle, ensuring proper chromosome segregation, DNA repair, and chromosome condensation. SMC3 is characterized by a conserved domain structure, including N- and C-terminal ATPase domains, coiled-coil regions, and a hinge domain that allows it to form a V-shaped heterodimer with SMC1; together with RAD21 and SA1/SA2, this forms a ring-like structure that entraps DNA and maintains sister chromatid cohesion. SMC3 is acetylated during DNA replication, stabilizing cohesin on chromosomes, and also participates in meiosis by forming complexes that mediate cohesion between homologous chromosomes. Pathogenic variants in the SMC3 gene are linked to Cornelia de Lange syndrome, a developmental disorder characterized by growth delays, intellectual disability, and distinctive facial features, with at least 15 disease-causing mutations identified to date.