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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
人类
CXXC4 - CXXC Finger Protein 4
Alias:
IDAX
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含CXXC型锌指结构域的蛋白质,作为正典wingless/integrated信号通路。编码的蛋白质通过与后突触密度蛋白/果蝇盘大肿瘤抑制子/Zonula Occludens-1蛋白结构域的Dishevelled相互作用,负调控wingless/integrated信号通路,这是一个稳定转录协同激活子β-catenin所需的支架蛋白。此外,该蛋白质的CXXC结构域已被证明能够结合未甲基化的CpG二核苷酸,定位在启动子和CpG岛,并与甲基胞嘧啶脱氧酶ten-eleven-translocation 2的催化结构域相互作用,这是一个依赖于铁和α-酮戊二酸的脱氧酶,可以修改DNA的甲基化状态。在人类中,这个基因的突变与恶性肾细胞癌的发展有关。可变剪接导致多个转录变异体。[RefSeq,2015年9月提供]
Related ID:
NCBI:80319
ENSEMBL:ENSG00000168772
HGNC:24593
UNIPROT:Q9H2H0
OMIM:611645
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Related Mouse Models
Reference
80319
2
3
26587 bp
Unknown
9
--
4
1
CXXC4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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