MBD4
Function
Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.
Involvement in disease
Tumor predisposition syndrome 2
TPDS2
An autosomal recessive condition characterized by predisposition to develop a variety of tumors or malignancies, including acute myeloid leukemia, myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma.
None
The disease is caused by variants affecting the gene represented in this entry.
Melanoma, uveal, 1
UVM1
Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
MED1, MBD4, Methyl-CpG-binding domain protein 4, Methyl-CpG-binding endonuclease 1, Methyl-CpG-binding protein MBD4, Mismatch-specific DNA N-glycosylase