MLH1 Gene
mutL homolog 1
ALIAS SYMBOLS
HNPCC
FCC2
HNPCC2
Your Results
Sign InDescription
The MLH1 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. The MLH1 protein joins with another protein called PMS2 (produced from the PMS2 gene), to form a two-protein complex called a dimer. This complex coordinates the activities of other proteins that repair errors made during DNA replication. The repairs are made by removing a section of DNA that contains errors and replacing the section with a corrected DNA sequence. The MLH1 gene is one of a set of genes known as the mismatch repair (MMR) genes. The MLH1 protein can also form a dimer with the MLH3 or PMS1 protein (each produced from different genes), but the function of these dimers is not well understood.
CHROMOSOME
3
LOCATION
p22.2
LOCUS TYPE
gene with protein product
VARIANTS
2,030
External Links
HGNC
Ensembl
NCBI
OMIM