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A/G-specific adenine DNA glycosylase; mutY homolog; hMYH (MUTYH, MYH)
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
Cofactor:
- 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: nucleus
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
Related
adenomatous polyposis coli (APC); familial adenomatous polyposis (FAP)
General
DNA glycosylase
Properties
SIZE: entity length = 546 aa
MW = 60 kD
COMPARTMENT: cell nucleus
MOTIF: cofactor-binding site [287-287]
COFACTOR-BOUND: iron sulfur [FeS] cluster
cofactor-binding site [294-294]
COFACTOR-BOUND: iron sulfur [FeS] cluster
cofactor-binding site [297-297]
COFACTOR-BOUND: iron sulfur [FeS] cluster
cofactor-binding site [303-303]
COFACTOR-BOUND: iron sulfur [FeS] cluster
Nudix hydrolase {364-495}
Database Correlations
OMIM correlations
MORBIDMAP 604933
UniProt Q9UIF7
Pfam PF00730
Entrez Gene 4595
Kegg hsa:4595
References
- UniProt :accession Q9UIF7
- 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/