A/G-specific adenine DNA glycosylase; mutY homolog; hMYH (MUTYH, MYH)
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Function
- role in oxidative DNA damage repair
- initiates repair of A...oxoG to C...G by removing the inappropriately paired adenine base from the DNA backbone
- has both adenine & 2-OH-A DNA glycosylase activities
- binds 1 4Fe-4S cluster
- the 4Fe-4S cluster is not important for catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand
Structure
- belongs to the Nth/mutY family
- contains 1 nudix hydrolase domain
Compartment
Alternative splicing
- named isoforms=6
- alpha-1,2 & 3; beta-1,2 & 3
Pathology
- defects in MUTYH are a cause of MYH-associated polyposis & adenomatous polyposis coli, autosomal recessive
- defects in MUTYH are a cause of gastric cancer
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9UIF7.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/MUTYHID41464ch1p34.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MUTYH
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/mutyh/
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4595
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4595
- OMIM: https://mirror.omim.org/entry/604933
- OMIM: https://mirror.omim.org/entry/608456
- OMIM: https://mirror.omim.org/entry/613659
- UniProt: http://www.uniprot.org/uniprot/Q9UIF7.html