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This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
[中文简述(自动翻译):]  该基因编码的DNA解旋酶,其功能如同通过重塑染色质结构转录抑制。其结合β-连环蛋白和负调控Wnt信号通路,它在脊椎动物早期发育和形态发生的关键作用。缺乏这种基因的展览胚胎早期死亡小鼠。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2010年5月提供]
CHD8基因(以及对应的蛋白质)的细胞分布位置:
CHD8基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Autistic Disorder | 0.121900093 | 8 | 0 | BeFree_CTD_human |
| Macrocephaly | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Child Development Disorders, Pervasive | 0.12 | 1 | 0 | CTD_human |
| Gastrointestinal Diseases | 0.12 | 1 | 0 | CTD_human |
| AUTISM, SUSCEPTIBILITY TO, 18 | 0.12 | 0 | 4 | CLINVAR |
| Atrial Septal Defects | 0.001357209 | 5 | 0 | BeFree |
| Autism Spectrum Disorders | 0.001085767 | 4 | 0 | BeFree |
| CHARGE Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Intellectual Disability | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
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