Log In|Sign Up
中文人类
MLH1 - MutL Homolog 1
Alias:
FCC2
COCA2
HNPCC
MLH-1
hMLH1
HNPCC2
LYNCH2
MMRCS1
Favorite
这个基因编码的蛋白质可以与错配修复核酸酶PMS2形成异源二聚体，形成MutL alpha，作为DNA错配修复系统的一部分。当MutL alpha与MutS beta和一些辅助蛋白结合时，MutL alpha的PMS2亚基在DNA错配附近引入单链断裂，为核酸外切酶降解提供入口。这个基因也参与DNA损伤信号传导，可以与DNA错配修复蛋白MLH3形成异源二聚体，形成MutL gamma，参与减数分裂。这个基因被鉴定为遗传性非息肉结肠癌（HNPCC）中经常发生突变的位点。[RefSeq，2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MLH1 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
