人 MAD1L1 抗体对
01AB01881
Mitotic arrest deficient 1 like 1 (MAD1L1) is a crucial component of the mitotic spindle-assembly checkpoint, ensuring proper chromosome alignment at the metaphase plate before anaphase onset. MAD1L1 functions primarily as a homodimer and interacts with MAD2L1, forming a heterotetrameric complex at unattached kinetochores during prometaphase. This complex recruits and converts open-conformation MAD2L1 to its closed form, thereby maintaining checkpoint signaling and genomic stability. MAD1L1 also anchors MAD2L1 to the nuclear periphery and can repress telomerase expression by binding to the TERT promoter. The protein localizes to the centrosome during metaphase and to the spindle midzone and midbody during later mitotic stages. Disruption of MAD1L1 function impairs the spindle assembly checkpoint, leading to chromosomal instability. Clinically, mutations in MAD1L1 are associated with mosaic variegated aneuploidy syndromes, which involve tumor predisposition and developmental abnormalities.
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技术参数
- 靶点基因名
- MAD1L1
- 基因别名
- MAD1; TXBP181
- 蛋白别名
- mitotic arrest deficient 1 like 1; MAD1L1
- UniProt
- Q9Y6D9
- 物种
- Human
产品详情
- 靶点名称
- MAD1L1
- 蛋白名称
- mitotic arrest deficient 1 like 1
- 蛋白别名
- Mitotic spindle assembly checkpoint protein MAD1; Mitotic arrest deficient 1-like protein 1; MAD1-like protein 1; Mitotic checkpoint MAD1 protein homolog; HsMAD1; hMAD1; Tax-binding protein 181
- 靶点基因名
- MAD1L1
- 基因别名
- MAD1; TXBP181
- UniProt
- Q9Y6D9
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Mitotic arrest deficient 1 like 1 (MAD1L1) is a crucial component of the mitotic spindle-assembly checkpoint, ensuring proper chromosome alignment at the metaphase plate before anaphase onset. MAD1L1 functions primarily as a homodimer and interacts with MAD2L1, forming a heterotetrameric complex at unattached kinetochores during prometaphase. This complex recruits and converts open-conformation MAD2L1 to its closed form, thereby maintaining checkpoint signaling and genomic stability. MAD1L1 also anchors MAD2L1 to the nuclear periphery and can repress telomerase expression by binding to the TERT promoter. The protein localizes to the centrosome during metaphase and to the spindle midzone and midbody during later mitotic stages. Disruption of MAD1L1 function impairs the spindle assembly checkpoint, leading to chromosomal instability. Clinically, mutations in MAD1L1 are associated with mosaic variegated aneuploidy syndromes, which involve tumor predisposition and developmental abnormalities.