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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
小鼠
Msh5 - mutS homolog 5
Alias:
Mut5
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码MutS家族蛋白质的一员,该蛋白质在DNA错配修复和减数分裂同源重组过程中发挥关键作用。缺乏编码的蛋白质的小鼠可以存活,但不能繁殖,雄性精子发生严重缺陷,雌性卵巢结构完全丧失。人类中类似基因的突变已被证明会导致常见可变免疫缺陷(CVID)和免疫球蛋白A缺陷。该基因的可变剪接导致多个转录变异体。[由RefSeq,2015年1月提供]
Related ID:
NCBI:17687
ENSEMBL:ENSMUSG00000007035
UNIPROT:Q9QUM7
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
17687
22
25
20262 bp
92.60
6
7
Msh5 Genetics information (-)
GRCm39
Sequence Homology
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
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
References Literature
Title
PMID
Journal
Year
IF
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