MLH1

Universal Cellular Machinery · DNA Damage Repair & Genomic Integrity

How does MLH1 help correct mistakes made while DNA is copied?

MLH1 makes a mismatch-repair protein that pairs with PMS2. Their complex coordinates repair after copying errors are recognized.

Common Gene Name
mutL homolog 1
NCBI Gene ID
4292
Chromosome
3

Clinical Evidence Status

Actionability report availableEstablished disease relationship

These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.

Answer Sources

Explore supporting evidence (7 records)
Condition or drugEvidenceGrade / statusContextSource
Lynch syndromeClinGen gene-disease validityDefinitiveAutosomal dominantView source
2022-06-20
mismatch repair cancer syndrome 1ClinGen gene-disease validityDefinitiveAutosomal recessiveView source
2018-10-09
hereditary breast carcinomaClinGen gene-disease validityRefutedAutosomal dominantView source
2023-12-21
Constitutional mismatch repair deficiency syndromeMedlinePlus related conditionAssociation type varies; no grade assigned hereView source
2025-05
Mismatch repair cancer syndrome (MMRCS)ClinGen clinical actionabilityScored report; not a validity gradeAdultView source
2022-12-06
Lynch SyndromeClinGen clinical actionabilityScored report; not a validity gradeAdultView source
2023-06-28
Mismatch repair cancer syndrome (MMRCS)ClinGen clinical actionabilityScored report; not a validity gradePediatricView source
2024-03-24

Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.

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