Log In|Sign Up
中文人类
PMS2 - PMS1 Homolog 2, Mismatch Repair System Component
Alias:
MLH4
PMS-2
PMSL2
HNPCC4
LYNCH4
MMRCS4
PMS2CL
Favorite
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]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PMS2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
