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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
MCM6 - Minichromosome Maintenance Complex Component 6
Alias:
Mis5
P105MCM
MCG40308
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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、4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激酶对该复合物的磷酸化降低了解旋酶活性,提示在DNA复制中的调节作用。这个基因的内含子区域的单核苷酸多态性与相邻乳糖酶基因启动子的差异性转录激活相关,从而影响成年早期乳糖不耐受。[RefSeq提供,2012年5月]
Related ID:
NCBI:4175
ENSEMBL:ENSG00000076003
HGNC:6949
UNIPROT:Q14566
OMIM:601806
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4175
1
17
36818 bp
92.89
44
1
1
32
MCM6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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