Homo Sapiens
MLH1 - MutL Homolog 1
Alias:
FCC2
COCA2
HNPCC
MLH-1
hMLH1
HNPCC2
LYNCH2
MMRCS1
Basic Information
Sequence Homology
Disease & Mutation
Transcripts & Proteins
Gene Expression
Protein Interaction
Related Models
Drugs
References
The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Models
Reference
28
19
57381 bp
84.60
114826
10
22
107
MLH1 Genetics information (+)
GRCh38
Chr : -
Sequence Homology
Selected Gene:
Human:MLH1
Disease & Mutation
#
Disease
Anatomical category
Score
Count
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Expression
Alphabetical
Cell-specific RNA expression
Organ
Expression
Alphabetical
Protein Interaction
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Models
Type
Name
MGI
Strain of Origin
Publications
No data available
Drugs
Name
CAS Number
Status
Phase
Link
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
Variant
Sequence
Comparison
Al agent
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