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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
MSH3 - MutS Homolog 3
Alias:
DUP
FAP4
MRP1
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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与MSH2形成异源二聚体,形成MutS beta,是复制后DNA错配修复系统的一部分。MutS beta通过结合错配位点并开始与MutL alpha异源二聚体形成复合物来启动错配修复。这个基因在第一个外显子中包含一个多态性9 bp重复序列。该重复序列在参考基因组序列中出现了6次,已经报道的重复次数为3-7次。这个基因的缺陷是导致子宫内膜癌易感性的原因之一。[RefSeq,2011年3月提供]
Related ID:
NCBI:4437
ENSEMBL:ENSG00000113318
HGNC:7326
UNIPROT:P20585
OMIM:600887
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4437
1
24
222164 bp
127.41
3985
2
5
14
MSH3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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IF
No Data Found!
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