人 ANKRD17 抗体对
01AB02053
Ankyrin repeat domain 17 (ANKRD17) is a large nuclear protein characterized by multiple N-terminal ankyrin repeat arrays and a cyclin-binding RXL motif. It plays a significant role in cell-cycle regulation and DNA replication by interacting with CDK2 to facilitate S-phase entry and the loading of replication factors onto chromatin. Beyond its nuclear functions, ANKRD17 acts as a positive regulator of innate immunity, enhancing antiviral signaling through RIG-I and MDA5 and participating in NOD1/NOD2-mediated antibacterial pathways. Clinically, heterozygous de novo loss-of-function variants in ANKRD17 cause Chopra-Amiel-Gordon syndrome, a neurodevelopmental disorder characterized by intellectual disability and multiple congenital anomalies. Its involvement in both genomic stability and immune defense highlights its critical role in cellular development and the maintenance of systemic health.
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技术参数
- 靶点基因名
- ANKRD17
- 基因别名
- GTAR; KIAA0697
- 蛋白别名
- ankyrin repeat domain 17; ANKRD17
- UniProt
- O75179
- 物种
- Human
产品详情
- 靶点名称
- ANKRD17
- 蛋白名称
- ankyrin repeat domain 17
- 蛋白别名
- Ankyrin repeat domain-containing protein 17; Gene trap ankyrin repeat protein; Serologically defined breast cancer antigen NY-BR-16
- 靶点基因名
- ANKRD17
- 基因别名
- GTAR; KIAA0697
- UniProt
- O75179
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Ankyrin repeat domain 17 (ANKRD17) is a large nuclear protein characterized by multiple N-terminal ankyrin repeat arrays and a cyclin-binding RXL motif. It plays a significant role in cell-cycle regulation and DNA replication by interacting with CDK2 to facilitate S-phase entry and the loading of replication factors onto chromatin. Beyond its nuclear functions, ANKRD17 acts as a positive regulator of innate immunity, enhancing antiviral signaling through RIG-I and MDA5 and participating in NOD1/NOD2-mediated antibacterial pathways. Clinically, heterozygous de novo loss-of-function variants in ANKRD17 cause Chopra-Amiel-Gordon syndrome, a neurodevelopmental disorder characterized by intellectual disability and multiple congenital anomalies. Its involvement in both genomic stability and immune defense highlights its critical role in cellular development and the maintenance of systemic health.