The gene CHD8 encodes the protein chromodomain helicase DNA binding protein 8, [7] which is a chromatin regulator enzyme that is essential during fetal development. [8] CHD8 is an ATP dependent enzyme. [9] The protein contains an Snf2 helicase domain that is responsible for the hydrolysis of ATP to ADP. [9]

2022年10月27日 · CHD8 encodes chromodomain-helicase-DNA-binding protein 8 (CHD-8), a DNA helicase involved in several processes including transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis.

2024年12月24日 · CHD8 (Chromodomain Helicase DNA Binding Protein 8) is a Protein Coding gene. Diseases associated with CHD8 include Intellectual Developmental Disorder With Autism And Macrocephaly and Autism Spectrum Disorder. Among its related pathways are ncRNAs involved in Wnt signaling in hepatocellular carcinoma and Signaling by WNT.

Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the genes with the strongest association with autism. The CHD8 protein is a transcriptional regulator that is expressed in nearly all cell types and has been implicated ...

CHD8基因属于SNF2H样ATP依赖染色质重塑子CHD家族（chromodomain helicase DNA-binding (CHD) family of SNF2H-like ATP-dependent chromatin remodelers），CHD8基因突变可导致先天发育异常，包括生长迟缓和智力障碍。

2022年12月27日 · By generating a conditional loss-of-function and an endogenously tagged allele in human pluripotent stem cells, we investigated the molecular function and the interaction of CHD8 with chromatin...

2021年4月20日 · 近日，日本九州大学的Kyushu University团队在 Cell Reports 发表了“ The autism-associated protein CHD8 is required for cerebellar development and motor function” 报道了 CHD8在小脑发育和运动功能中的重要作用。 1.CHD8消融小鼠脑导致小脑发育不良. 通过在神经前体/干细胞中活跃的Nestin启动子的控制下，将携带有Chd8L等位基因的小鼠与表达Cre重组酶的小鼠杂交，产生Nestin-Cre/Chd8LF/F小鼠。 Nestin-Cre/Chd8LF/F小鼠与对照同窝仔相比， …

2024年2月28日 · CHD8 encodes an ATP-dependent chromatin remodelling factor [6] and mutations in chromatin regulatory factors are now known to be one of the most prevalent causes of neurodevelopmental disorders [7].

CHD8（chromodomain helicase DNA binding protein 8）， 基因 名称。 该 基因突变 与 自闭症谱系障碍 密切相关。 自闭症，又称 孤独症，是一种由脑部发育障碍所导致的疾病，中国儿童自闭症的患病率约为1%，目前尚无有效根治方法，严重影响患者的日常生活与社交能力。 其中CHD8基因的突变与 自闭症谱系障碍 密切相关。 然而，CHD8 基因突变 如何导致脑异常发育所致大头畸形的分子机制尚不明确。 [1] 2023年3月7日， 暨南大学 教授 李晓江 团队和 中国科学院遗传与发 …

2022年10月1日 · One of the family members, chromodomain helicase DNA binding protein 8 (CHD8), is located at 14q11.2 and has been ascribed various roles involving several biological pathways, including a...