人 RPL30 抗体对
01AB03164
Ribosomal protein L30 (RPL30) is a conserved basic component of the 60S large ribosomal subunit. It binds directly to rRNA, contributing to the structural stability and catalytic function of the ribosome during protein synthesis. Encoded on chromosome 8, RPL30 is highly expressed and evolutionarily conserved. While direct pathogenic variants are rare, RPL30 is associated with the pathophysiology of ribosomopathies such as Diamond-Blackfan anemia. Haploinsufficiency or dysfunction of ribosomal proteins like RPL30 disrupts erythropoiesis, leading to congenital anemia phenotypes and disordered hematopoiesis.
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技术参数
- 靶点基因名
- RPL30
- 蛋白别名
- ribosomal protein L30; RPL30
- UniProt
- P62888
- 物种
- Human
产品详情
- 靶点名称
- RPL30
- 蛋白名称
- ribosomal protein L30
- 蛋白别名
- Large ribosomal subunit protein eL30; 60S ribosomal protein L30
- 靶点基因名
- RPL30
- UniProt
- P62888
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Ribosomal protein L30 (RPL30) is a conserved basic component of the 60S large ribosomal subunit. It binds directly to rRNA, contributing to the structural stability and catalytic function of the ribosome during protein synthesis. Encoded on chromosome 8, RPL30 is highly expressed and evolutionarily conserved. While direct pathogenic variants are rare, RPL30 is associated with the pathophysiology of ribosomopathies such as Diamond-Blackfan anemia. Haploinsufficiency or dysfunction of ribosomal proteins like RPL30 disrupts erythropoiesis, leading to congenital anemia phenotypes and disordered hematopoiesis.