gene 667 words KG: MLH1
Contents

MLH1 Gene

🧬 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, cancer, Colorectal Cancer, Gastric Cancer
InteractionsAPC, APOPTOSIS, ARID1A, CANCER, CGAS, CGAS-STING
KG Connections136 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Related Hypotheses (2)

CYP46A1 Overexpression Gene Therapy
Score: 0.77
Astrocytic Lipoxin A4 Pathway Restoration via ALOX15 Gene Th
Score: 0.69

Related Analyses (3)

Neuroinflammation resolution mechanisms and pro-resolving me
neurodegeneration · archived
Lipid raft composition changes in synaptic neurodegeneration
neurodegeneration · completed
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

See Also (15)

Apoptosis in Neurodegeneration
entity · KG edge: activates
ACVR2A Gene
gene · KG edge: associated_with
APC Gene
gene · KG edge: activates
ARID1A
gene · KG edge: activates
ATM Gene
gene · KG edge: associated_with

Knowledge Graph (12 edges)

MSH2 expressed_in MLH1
PI3K expressed_in MLH1
RB1 expressed_in MLH1
MSH6 expressed_in MLH1
ATRX expressed_in MLH1
AKT expressed_in MLH1
TP53 expressed_in MLH1
STING activates MLH1
MLH1 activates CGAS
MLH1 expressed_in MSH2

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