人 SMG9 抗体对
01AB03202
SMG9 nonsense mediated mRNA decay factor (SMG9) is a cytoplasmic regulatory subunit of the SMG1–8–9 kinase complex, essential for the nonsense-mediated mRNA decay (NMD) surveillance pathway. It is recruited alongside SMG1 and SMG8 to stalled ribosomes, where it facilitates the efficient association of SMG1 with SMG8 and enables the SMG1-mediated phosphorylation of UPF1. This phosphorylation is a critical step that triggers NMD and the subsequent degradation of mRNAs containing premature termination codons. By controlling the stability of both aberrant and specific physiological transcripts, SMG9 plays a vital role in the development of the brain, heart, and eyes. Biallelic loss-of-function mutations in SMG9 are well-established causes of heart and brain malformation syndrome, a congenital disorder characterized by structural brain malformations, heart defects, and developmental delay.
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技术参数
- 靶点基因名
- SMG9
- 基因别名
- C19orf61
- 蛋白别名
- SMG9 nonsense mediated mRNA decay factor; SMG9
- UniProt
- Q9H0W8
- 物种
- Human
产品详情
- 靶点名称
- SMG9
- 蛋白名称
- SMG9 nonsense mediated mRNA decay factor
- 蛋白别名
- Nonsense-mediated mRNA decay factor SMG9
- 靶点基因名
- SMG9
- 基因别名
- C19orf61
- UniProt
- Q9H0W8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
SMG9 nonsense mediated mRNA decay factor (SMG9) is a cytoplasmic regulatory subunit of the SMG1–8–9 kinase complex, essential for the nonsense-mediated mRNA decay (NMD) surveillance pathway. It is recruited alongside SMG1 and SMG8 to stalled ribosomes, where it facilitates the efficient association of SMG1 with SMG8 and enables the SMG1-mediated phosphorylation of UPF1. This phosphorylation is a critical step that triggers NMD and the subsequent degradation of mRNAs containing premature termination codons. By controlling the stability of both aberrant and specific physiological transcripts, SMG9 plays a vital role in the development of the brain, heart, and eyes. Biallelic loss-of-function mutations in SMG9 are well-established causes of heart and brain malformation syndrome, a congenital disorder characterized by structural brain malformations, heart defects, and developmental delay.