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MUTYH

From SNPedia

is agene
is mentioned by
Full namemutY homolog (E. coli)
EntrezGene4595
PheGenI4595
VariationViewer4595
ClinVarMUTYH
GeneCardsMUTYH
dbSNP4595
SADR4595
HugeNav4595
wikipediaMUTYH
googleMUTYH
gopubmedMUTYH
EVSMUTYH
HEFalMpMUTYH
MyGene2MUTYH
23andMeMUTYH
UniProtQ9UIF7
EnsemblENSG00000132781
OMIM604933
# SNPs70
 Max MagnitudeChromosome positionSummary
rs1052734245,795,708
rs121908380045,333,449
rs121908381045,331,220
rs121908382045,331,530
rs121908383045,331,502
rs138775799045,333,472
rs140342925045,332,445
rs143353451045,332,794
rs200495564045,332,446
rs200844166045,331,240
rs321946345,340,760
rs3219466045,340,381
rs3219468045,339,894
rs321947245,338,378
rs321947645,336,998
rs321948945,331,833
rs34126013045,332,458
rs34612342245,332,803
rs360539933.145,331,556
rs372267274045,333,171
rs374950566045,332,215
rs376561094045,332,636
rs376790729045,331,223
rs529008617045,331,529
rs587776618045,331,197
rs587778536045,331,700
rs587778541045,331,219
rs587780078045,331,514
rs587780082045,331,835
rs587780088045,334,493
rs587780749045,332,443
rs587780751045,332,163
rs587781295045,333,166
rs587781337045,331,660
rs587781338045,332,080
rs587781628045,331,558
rs587781704045,334,457
rs587782228045,330,557
rs587782716045,329,405
rs587782730045,332,916
rs587782885045,332,440
rs587783057045,331,676
rs730881832045,333,168
rs730881833045,332,242
rs747993448045,332,795
rs748170941045,333,452
rs762307622045,332,955
rs765123255045,333,436
rs768130289045,331,745
rs773087549045,332,401
... further results

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: