人 MBD5 抗体对
01AB02500
Methyl-CpG binding domain protein 5 (MBD5) is a nuclear chromatin-associated protein belonging to the MBD family, characterized by an N-terminal methyl-CpG binding domain and a central PWWP domain. Although it contains a structural motif related to methyl-DNA binders, MBD5 functions primarily as a transcriptional regulator and neuronal differentiation factor rather than a canonical methyl-CpG binding protein. It associates with the PR-DUB deubiquitinase complex to modulate gene expression at active chromatin sites marked by H3K4me1/3 and H3K27ac. MBD5 is widely expressed with significant enrichment in the brain, where it plays a vital role in chromatin organization and neurodevelopment. Clinically, haploinsufficiency or disruptive variants of MBD5 are the established cause of MBD5-associated neurodevelopmental disorder, also known as 2q23.1 deletion syndrome. This condition is characterized by intellectual disability, severe speech impairment, autistic features, seizures, and distinct craniofacial dysmorphism.
| 规格 | 起售价 |
|---|---|
| 登录后可查看 | |
技术参数
- 靶点基因名
- MBD5
- 基因别名
- KIAA1461
- 蛋白别名
- methyl-CpG binding domain protein 5; MBD5
- UniProt
- Q9P267
- 物种
- Human
产品详情
- 靶点名称
- MBD5
- 蛋白名称
- methyl-CpG binding domain protein 5
- 蛋白别名
- Methyl-CpG-binding domain protein 5; Methyl-CpG-binding protein MBD5
- 靶点基因名
- MBD5
- 基因别名
- KIAA1461
- UniProt
- Q9P267
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Methyl-CpG binding domain protein 5 (MBD5) is a nuclear chromatin-associated protein belonging to the MBD family, characterized by an N-terminal methyl-CpG binding domain and a central PWWP domain. Although it contains a structural motif related to methyl-DNA binders, MBD5 functions primarily as a transcriptional regulator and neuronal differentiation factor rather than a canonical methyl-CpG binding protein. It associates with the PR-DUB deubiquitinase complex to modulate gene expression at active chromatin sites marked by H3K4me1/3 and H3K27ac. MBD5 is widely expressed with significant enrichment in the brain, where it plays a vital role in chromatin organization and neurodevelopment. Clinically, haploinsufficiency or disruptive variants of MBD5 are the established cause of MBD5-associated neurodevelopmental disorder, also known as 2q23.1 deletion syndrome. This condition is characterized by intellectual disability, severe speech impairment, autistic features, seizures, and distinct craniofacial dysmorphism.