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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
MSH4 - MutS Homolog 4
Alias:
ASG
POF20
SPGF2
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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DNA错配修复mutS家族的一员。这个成员是一种有丝分裂特异性的蛋白质,不参与DNA错配的纠正,但对于互逆转换和减数分裂I期同源染色体的正确分离是必需的。这种蛋白质与MSH5形成独特的异源二聚体,可以特异性地结合到Holliday连接及其发育前体,从而引发ADP-ATP交换,并在减数分裂双链断裂修复过程中稳定亲本染色体之间的相互作用。[由RefSeq,2011年8月提供]
Related ID:
NCBI:4438
ENSEMBL:ENSG00000057468
HGNC:7327
UNIPROT:O15457
OMIM:602105
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4438
1
20
116361 bp
104.76
50
5
2
10
MSH4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Target
Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
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