Gene: ORMDL1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q32.2

Description of this Gene: ORMDL sphingolipid biosynthesis regulator 1

Type of Gene: protein-coding

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

rs5742933 in ORMDL1;PMS1 gene and Ferritin measurement PMID 25162662 2014 After adjusting for population stratification, age and BMI, the rs5742933 located in the 5'UTR region of PMS1 gene on chromosome 2 was the most significantly associated with ferritin concentrations (P-combined  = 2.329×10(-10)) (β  =  -0.11, 95% CI: -0.14, -0.07).

rs5742933 in ORMDL1;PMS1 gene and Serum ferritin measurement PMID 25162662 2014 Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.