Gene: PMS1

Alternate names for this Gene: HNPCC3|MLH2|PMSL1|hPMS1

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q32.2

Description of this Gene: PMS1 homolog 1, mismatch repair system component

Type of Gene: protein-coding

rs5743077 in PMS1 gene and Ferritin measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs5743077 in PMS1 gene and Serum ferritin measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?