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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Chd8 - chromodomain helicase DNA binding protein 8
Alias:
Chd-8
Duplin
HELSNF1
mKIAA1564
5830451P18Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个染色质域-螺旋酶-DNA结合蛋白家族的成员,其特征是一个SNF2样结构域和两个染色质组织修饰结构域。编码的蛋白质还包含brahma和kismet结构域,这是这个蛋白质所属的染色质域-螺旋酶-DNA结合蛋白亚家族所共有的。在哺乳动物中,这个基因已经证明在包括转录调控、表观遗传重塑、促进细胞增殖和RNA合成调控等多个过程中发挥作用。这个基因的敲除导致早期胚胎致死,原因是广泛的细胞凋亡。功能突变的结果是杂合子丧失功能,导致自闭症谱系障碍样行为,包括焦虑增加、重复行为和社交行为改变。[由RefSeq提供,2016年12月]
Related ID:
NCBI:67772
ENSEMBL:ENSMUSG00000053754
UNIPROT:Q09XV5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
67772
2
38
59892 bp
290.85
18
8
Chd8 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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