gene

MLH1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about MLH1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

141Connections
0Hypotheses
0Analyses
50Outgoing
50Incoming

Summary

MLH1 is a gene implicated in neurodegeneration research. Key relationships include: associated with, expressed in, activates. Associated with Als, Cancer, Carcinoma. Connected to 88 entities in the SciDEX knowledge graph.

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🧬 Gene Info
Gene SymbolMLH1
Full NameMutL Homolog 1
Chromosome3p22.2
FunctionMLH1 (MutL Homolog 1) encodes a key DNA mismatch repair (MMR) protein that is essential for maintaining genomic stability.
PathwaysApoptosis, epigenetic regulation, oxidative stress response
UniProt ID[P40692](https://www.uniprot.org/uniprot/P40692)
Ensembl IDENSG00000082142
GeneCardsMLH1
Human Protein AtlasMLH1
PMS2 GeneMLH1 binding partner and essential MMR component
MSH2/MSH6 and MSH3 GenesMutS homolog proteins recognizing initial mismatches
Huntington's DiseasePrimary polyglutamine disease showing MLH1-dependent repeat instability
Lynch SyndromeCancer predisposition disorder from MLH1 mutations
DNA Mismatch Repair PathwayCore cellular mechanism requiring MLH1
Associated DiseasesAls, COLORECTAL CANCER, Cancer, Gastric Cancer
InteractionsCGAS, HUNTINGTIN, STING, TP53, ARID1A, APC
KG Connections141 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

MLH1 Gene

gene · 667 words

Huntington's Disease

disease · 4606 words

Huntingtin Protein (HTT)

protein · 3473 words

Trinucleotide Repeat Expansion Disorders

mechanism · 3379 words

POLD1

gene · 2427 words

PMS2 — DNA Mismatch Repair Protein PMS2

gene · 2029 words

Pathway Diagram

graph TD
    MLH1["<b>MLH1</b>"]
    Cancer{"Cancer"}
    MLH1 -->|"expressed in"| Cancer
    Tumor{"Tumor"}
    MLH1 -->|"expressed in"| Tumor
    Ms{"Ms"}
    MLH1 -->|"expressed in"| Ms
    Huntington{"Huntington"}
    MLH1 -->|"activates"| Huntington
    MLH1 -->|"inhibits"| Ms
    MLH1 -->|"inhibits"| Cancer
    MLH1 -->|"activates"| Tumor
    Als{"Als"}
    MLH1 -->|"therapeutic target"| Als
    MLH1 -->|"therapeutic target"| Ms
    MLH1 -->|"associated with"| Cancer
    Carcinoma{"Carcinoma"}
    MLH1 -->|"therapeutic target"| Carcinoma
    Dna_Methylation(["Dna Methylation"])
    MLH1 -->|"expressed in"| Dna_Methylation
    MSH2["MSH2"]
    MSH2 -->|"expressed in"| MLH1
    PI3K["PI3K"]
    PI3K -->|"expressed in"| MLH1
    RB1["RB1"]
    RB1 -->|"expressed in"| MLH1
    MSH6["MSH6"]
    MSH6 -->|"expressed in"| MLH1
    GENES["GENES"]
    GENES -->|"expressed in"| MLH1
    DNA["DNA"]
    DNA -->|"expressed in"| MLH1
    ATRX["ATRX"]
    ATRX -->|"expressed in"| MLH1
    AKT["AKT"]
    AKT -->|"expressed in"| MLH1
    TP53["TP53"]
    TP53 -->|"expressed in"| MLH1
    STING["STING"]
    STING -->|"activates"| MLH1
    DNA -->|"activates"| MLH1
    CGAS_STING["CGAS-STING"]
    CGAS_STING -->|"activates"| MLH1
    style MLH1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (89)

TargetRelationTypeStr
Cancerassociated_withdisease0.85
CANCERassociated_withgene0.70
Cancerexpressed_indisease0.65
Tumorexpressed_indisease0.65
Msexpressed_indisease0.65

Incoming (52)

SourceRelationTypeStr
BAXassociated_withgene0.70
MSH2expressed_ingene0.60
PI3Kexpressed_ingene0.60
RB1expressed_ingene0.60
MSH6expressed_ingene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found