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?