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中文人类
PMS1 - PMS1 Homolog 1, Mismatch Repair System Component
Alias:
MLH2
PMSL1
hPMS1
HNPCC3
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这个基因编码一个属于DNA错配修复mutL/hexB家族的蛋白质。这个蛋白质被认为参与DNA错配的修复，并且可以与已知的DNA错配修复蛋白MLH1形成异源二聚体。这个基因的突变导致3型遗传性非息肉性结直肠癌（HNPCC3），单独或其他参与HNPCC表型的基因突变，也被称为林奇综合症。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PMS1 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
