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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
Pms2 - PMS1 homolog2, mismatch repair system component
Alias:
Pmsl2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有预测的ATP水解活性,并能与单碱基插入或删除结合。预测能对MutSalpha复合物结合活性和单链DNA结合活性做出贡献。参与IgA同型转换的正调控;IgG同型转换的正调控;以及免疫球蛋白基因的体细胞超突变。在错配修复和免疫球蛋白基因段的体细胞重组的上游或内部发挥作用。是MutLalpha复合物的一部分。在小脑;生殖系统;视网膜;和尿道上皮中表达。该基因的人类同源物与林奇综合症;遗传性非息肉状结肠癌4型;错配修复癌症综合症;卵巢癌;和膀胱癌有关。与人类PMS2(PMS1同系2,错配修复系统成分)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18861
ENSEMBL:ENSMUSG00000075569
UNIPROT:P54279
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18861
20
15
76160 bp
95.30
7
3
Pms2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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