mutL homolog 1

Summary
Gene Symbol
  • MLH1
Organism
Homo sapiens (human)
NCBI Gene
4292
PubChem
4292
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Alternative splicing
  • Cell cycle
  • Chromosome
  • DNA repair
  • Disease variant
  • Hereditary nonpolyposis colorectal cancer
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Tumor suppressor
Proteins
Displaying all 3 entries
UniProt Protein Name
P40692
  • MutL protein homolog 1
H0Y818
Q59EG3
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:0050465 Muir-Torre syndrome
DOID:0070274 hereditary nonpolyposis colorectal cancer type 2
DOID:0112182 mismatch repair cancer syndrome
DOID:1324 lung cancer
DOID:3748 esophagus squamous cell carcinoma
DOID:3883 Lynch syndrome
DOID:8029 sporadic breast cancer
DOID:9256 colorectal cancer

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025