U.S. flag

An official website of the United States government

GTR Home > Genes

MLH3 mutL homolog 3

Gene ID: 27030, updated on 3-Apr-2024
Gene type: protein coding
Also known as: HNPCC7


This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Colorectal cancer
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs
Colorectal cancer, hereditary nonpolyposis, type 7
MedGen: C1858380OMIM: 614385GeneReviews: Not available
See labs
Endometrial carcinoma
MedGen: C0476089OMIM: 608089GeneReviews: Not available
See labs
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Genomic context

Chromosome: 14; NC_000014.9 (75013775..75051467, complement)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.