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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
CCNH - Cyclin H
Alias:
CAK
p34
p37
CycH
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于高度保守的细胞周期蛋白家族,其成员的特征是通过细胞周期的蛋白质丰度呈现显著周期性变化。细胞周期蛋白作为CDK激酶的调节因子发挥作用。不同的细胞周期蛋白表现出不同的表达和降解模式,从而参与有丝分裂事件的时序协调。这个细胞周期蛋白与CDK7激酶和指环蛋白MAT1形成复合物。这个激酶复合物能够磷酸化CDK2和CDC2激酶,从而作为CDK激活激酶(CAK)发挥作用。这个细胞周期蛋白及其激酶伙伴是TFIIH以及RNA聚合酶II蛋白复合物的组成部分。它们参与两种不同的转录调控过程,表明基础转录控制和细胞周期机制之间存在重要联系。这个基因的一个假基因位于染色体4上。交替剪接导致多个转录变异体。[RefSeq提供,2010年11月]
Related ID:
NCBI:902
ENSEMBL:ENSG00000134480
HGNC:1594
UNIPROT:P51946
OMIM:601953
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
902
6
9
101460 bp
37.64
795
7
2
18
CCNH Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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