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PMS1
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For Research Use Only. Not For Clinical Use.
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome.
Predicted location
Intracellular
Single cell type specificity
Group enriched (Late spermatids, Early spermatids)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). The MutL-beta complex is a heterodimer of PMS1 and MLH1 (PubMed:10748105). Interacts with MCM9 (PubMed:26300262).
Molecular function
DNA-binding
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