Gene Detail
Contact
Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene Symbol | PMS1 | ||||||||||
| Synonyms | HNPCC3 | hPMS1 | MLH2 | PMSL1 | ||||||||||
| Gene Description | PMS1, PMS1 homolog 1, mismatch repair system component, is a MutL homolog that interacts with MLH1 and has a putative role in DNA mismatch repair (PMID: 11920679). Germline PMS1 mutations are associated with Lynch syndrome (PMID: 19466295) and somatic mutations have been identified in multiple myeloma, colorectal cancer, and ovarian cancer (PMID: 30809292, PMID: 24614649, PMID: 24333356). | ||||||||||
|
|||||||||||
Additional content available in 
CKB BOOST
CKB BOOST
