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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
MCM4 - Minichromosome Maintenance Complex Component 4
Alias:
NKCD
CDC21
CDC54
IMD54
NKGCD
hCdc21
P1-CDC21
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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是高度保守的迷你染色体维持蛋白(MCM)之一,对于真核基因组复制的启动是必不可少的。MCM蛋白形成的六聚体蛋白质复合物是复制前复合物(pre_RC)的关键组成部分,可能参与复制叉的形成和其他DNA复制相关蛋白质的招募。这个蛋白质和MCM2、6和7蛋白组成的MCM复合物具有DNA解旋酶活性,可能作为DNA解旋酶发挥作用。CDC2激酶对这个蛋白质的磷酸化降低MCM复合物的DNA解旋酶活性和染色质结合能力。这个基因定位在染色体8头的区域,与PRKDC/DNA-PK相邻,PRKDC/DNA-PK是一种参与DNA双链断裂修复的DNA激活的蛋白激酶。已经报道了一种编码相同蛋白质的替代剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4173
ENSEMBL:ENSG00000104738
HGNC:6947
UNIPROT:P33991
OMIM:602638
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
4173
2
17
17220 bp
96.56
488
1
7
30
MCM4 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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