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

Structure

contains 1 MBD domain (methyl-CpG-binding)

Compartment

nucleus

Alternative splicing

named isoforms=3

Pathology

More general terms

Additional terms

References

  1. OMIM https://mirror.omim.org/entry/603574
  2. UniProt http://www.uniprot.org/uniprot/O95243.html
  3. NIEHS-SNPs http://egp.gs.washington.edu/data/mbd4/
  4. 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

Database