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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
PMS2 - PMS1 Homolog 2, Mismatch Repair System Component
Alias:
MLH4
PMS-2
PMSL2
HNPCC4
LYNCH4
MMRCS4
PMS2CL
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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错配修复系统的关键组成部分,该系统负责纠正DNA错配和在小规模插入和缺失过程中出现的错误,这些错误可能在DNA复制和同源重组过程中发生。这个蛋白质与mutL同源1(MLH1)基因的产物形成异二聚体,即MutL-alpha异二聚体。MutL-alpha异二聚体具有核酸内切活性,在识别错配和插入/缺失环路后被MutS-alpha和MutS-beta异二聚体激活,并且对于去除错配的DNA是必要的。在这个基因编码的蛋白质的C端有一个DQHA(X)2E(X)4E基序,它构成了核酸酶活性部位的组成部分。这个基因的突变与遗传性非息肉性结直肠癌(HNPCC,也称为林奇综合症)和Turcot综合症有关。[由RefSeq,2016年4月提供]
Related ID:
NCBI:5395
ENSEMBL:ENSG00000122512
HGNC:9122
UNIPROT:P54278
OMIM:600259
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5395
64
15
38182 bp
95.80
4593
14
7
34
PMS2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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