Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine.
Immunodeficiency with hyper-IgM 5
HIGM5
A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.
None
The disease is caused by variants affecting the gene represented in this entry.
Isoform 1 is processed by cleavage of a transit peptide.
Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family.
Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. Isoform 2 has the highest expression levels in tissues containing proliferating cells.
Proteins
Oncology
34645Da
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