|Full name||mutY homolog (E. coli)|
The human MUTYH gene encodes a (highly conserved) homolog of the E. coli mutY gene.
The enzyme encoded by the E. coli mutY gene (MIM ID 604933) is a component of a bacterial DNA mismatch repair system and works together with mutM (OGG1; MIM ID 601982) to correct A/G and A/C mismatches, which are products of oxidative DNA damage [PMID 10498741].
In humans, germline bi-allelic mutations in the MUTYH gene increase the risk of developing multiple adenomatous polyps and colorectal cancer [PMID 11818965]. These variants include:
- rs34612342, also known as Tyr165Cys
- rs36053993, also known as Gly396Asp
In 2019, 23andMe announced that they received FDA clearance to report on these two MUTYH variants in their Genetic Health Risk reports.