人 RBM12B 抗体对
01AB02886
RNA binding motif protein 12B (RBM12B) is a nuclear protein containing RNA recognition motif-like domains, implicated in the regulation of RNA splicing and the assembly of ribonucleoprotein complexes. It is widely expressed across tissues and has been characterized in various oncological contexts. Clinically, RBM12B is associated with neurodegenerative and neuro-ophthalmologic disorders. Genetic evidence links variants in this gene to conditions such as Boucher-Neuhauser syndrome and primary cerebellar degeneration, which present with cerebellar ataxia, chorioretinal atrophy, and hypogonadism.
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技术参数
- 靶点基因名
- RBM12B
- 蛋白别名
- RNA binding motif protein 12B; RBM12B
- UniProt
- Q8IXT5
- 物种
- Human
产品详情
- 靶点名称
- RBM12B
- 蛋白名称
- RNA binding motif protein 12B
- 蛋白别名
- RNA-binding protein 12B; RNA-binding motif protein 12B
- 靶点基因名
- RBM12B
- UniProt
- Q8IXT5
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
RNA binding motif protein 12B (RBM12B) is a nuclear protein containing RNA recognition motif-like domains, implicated in the regulation of RNA splicing and the assembly of ribonucleoprotein complexes. It is widely expressed across tissues and has been characterized in various oncological contexts. Clinically, RBM12B is associated with neurodegenerative and neuro-ophthalmologic disorders. Genetic evidence links variants in this gene to conditions such as Boucher-Neuhauser syndrome and primary cerebellar degeneration, which present with cerebellar ataxia, chorioretinal atrophy, and hypogonadism.