methyl-CpG-binding domain protein 4; methyl-CpG-binding protein MBD4; methyl-CpG-binding endonuclease 1; Mismatch-specific DNA N-glycosylase (MBD4, MED1)
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Function
- mismatch-specific DNA N-glycosylase
- DNA mismatch repair
- thymine glycosylase activity
- specific for G:T mismatches within methylated & unmethylated CpG sites
- can remove uracil or 5-fluorouracil in G:U mismatches
- no lyase activity
- interacts with MLH1
Structure
contains 1 MBD domain (methyl-CpG-binding)
Compartment
Alternative splicing
named isoforms=3
Pathology
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/603574
- ↑ UniProt http://www.uniprot.org/uniprot/O95243.html
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/mbd4/
- ↑ 4.0 4.1 O'Neil A DNA Repair Mutations Lead to AML Predisposition. In early research, germline mutations shut down a mechanism that guards against harmful mutations that increase leukemia risk. MedPage Today, ASCO Reading Room. Feb 21, 2018 https://www.medpagetoday.com/reading-room/asco/hematologic-malignancies/71284
Sanders MA, Chew E, Flensburg C et al Germline loss of MBD4 predisposes to leukaemia due to a mutagenic cascade driven by 5mC. bioRxiv preprint first posted online Nov. 1, 2017 https://www.biorxiv.org/content/biorxiv/early/2017/11/01/180588.full.pdf