抗人 RNF220 抗体对
01AB02024
Ring finger protein 220 (RNF220) is an evolutionarily conserved RING-type E3 ubiquitin-protein ligase that is highly expressed in the nervous system. It localizes primarily to the nuclear lamina and regulates signal transduction through both ubiquitin-dependent degradation and protein stabilization. RNF220 targets SIN3B for proteasomal degradation and, independently of its ligase activity, stabilizes β-catenin by recruiting the deubiquitinase USP7, thereby promoting canonical Wnt signaling. It also modulates the Sonic hedgehog (Shh)/Gli and interferon-STAT1 pathways, which are critical for neural patterning and motor neuron development. Clinically, pathogenic variants in RNF220 are associated with hypomyelinating leukodystrophy 23, a disorder characterized by ataxia, deafness, and dilated cardiomyopathy. Its broad influence on developmental signaling pathways also links RNF220 to tumorigenesis and immune dysregulation, reflecting its essential role in cellular homeostasis and neural integrity.
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技术参数
- 靶点基因名
- RNF220
- 基因别名
- C1orf164
- 蛋白别名
- ring finger protein 220; RNF220
- UniProt
- Q5VTB9
- 物种
- Human
产品详情
- 靶点名称
- RNF220
- 蛋白名称
- ring finger protein 220
- 蛋白别名
- E3 ubiquitin-protein ligase RNF220; RING finger protein 220; RING-type E3 ubiquitin transferase RNF220
- 靶点基因名
- RNF220
- 基因别名
- C1orf164
- UniProt
- Q5VTB9
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Ring finger protein 220 (RNF220) is an evolutionarily conserved RING-type E3 ubiquitin-protein ligase that is highly expressed in the nervous system. It localizes primarily to the nuclear lamina and regulates signal transduction through both ubiquitin-dependent degradation and protein stabilization. RNF220 targets SIN3B for proteasomal degradation and, independently of its ligase activity, stabilizes β-catenin by recruiting the deubiquitinase USP7, thereby promoting canonical Wnt signaling. It also modulates the Sonic hedgehog (Shh)/Gli and interferon-STAT1 pathways, which are critical for neural patterning and motor neuron development. Clinically, pathogenic variants in RNF220 are associated with hypomyelinating leukodystrophy 23, a disorder characterized by ataxia, deafness, and dilated cardiomyopathy. Its broad influence on developmental signaling pathways also links RNF220 to tumorigenesis and immune dysregulation, reflecting its essential role in cellular homeostasis and neural integrity.