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中文人类
MSH6 - MutS Homolog 6
Alias:
GTBP
HSAP
p160
GTMBP
MSH-6
HNPCC5
LYNCH5
MMRCS3
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这个基因编码DNA错配修复MutS家族的一员。在E. coli中，MutS蛋白在修复之前帮助识别错配的核苷酸。MutS同源物中有一个高度保守的区域，约150个氨基酸，称为Walker-A腺苷酸核苷酸结合基序。编码的蛋白质与MSH2异源二聚化，形成错配识别复合物，作为双向分子开关，当DNA错配结合和解离时，交换ADP和ATP。这个基因的突变可能与遗传性非息肉结肠癌、结直肠癌和子宫内膜癌有关。已经描述了编码不同异构体的转录变异体。[由RefSeq，2013年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MSH6 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
