人 RBM42 抗体对
01AB01822
RNA binding motif protein 42 (RBM42) is a 480-amino acid protein encoded by a gene on chromosome 19q13.12, featuring a C-terminal RNA recognition motif (RRM) that enables it to bind RNA, particularly the 3'-untranslated region of CDKN1A mRNA. RBM42 functions as a dual regulator of gene expression by modulating both mRNA splicing and translation, especially during the DNA damage response, where it facilitates the splicing and translation of key targets such as CDKN1A/p21 and interacts with the spliceosomal tri-snRNP complex. Its activity is crucial for fine-tuning gene expression in pathways related to RNA processing, cell cycle regulation, and genome stability. Disease associations include Kleefstra Syndrome 2 and TARP Syndrome, and recent studies have linked biallelic RBM42 variants to multisystem disorders with neurological, developmental, and hematological manifestations, highlighting its essential role in human health and development.
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技术参数
- 靶点基因名
- RBM42
- 蛋白别名
- RNA binding motif protein 42; RBM42
- UniProt
- Q9BTD8
- 物种
- Human
产品详情
- 靶点名称
- RBM42
- 蛋白名称
- RNA binding motif protein 42
- 蛋白别名
- RNA-binding protein 42; RNA-binding motif protein 42
- 靶点基因名
- RBM42
- UniProt
- Q9BTD8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
RNA binding motif protein 42 (RBM42) is a 480-amino acid protein encoded by a gene on chromosome 19q13.12, featuring a C-terminal RNA recognition motif (RRM) that enables it to bind RNA, particularly the 3'-untranslated region of CDKN1A mRNA. RBM42 functions as a dual regulator of gene expression by modulating both mRNA splicing and translation, especially during the DNA damage response, where it facilitates the splicing and translation of key targets such as CDKN1A/p21 and interacts with the spliceosomal tri-snRNP complex. Its activity is crucial for fine-tuning gene expression in pathways related to RNA processing, cell cycle regulation, and genome stability. Disease associations include Kleefstra Syndrome 2 and TARP Syndrome, and recent studies have linked biallelic RBM42 variants to multisystem disorders with neurological, developmental, and hematological manifestations, highlighting its essential role in human health and development.