UNG

Uracil-DNA glycosylase ;
UDG ;

disease:Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]. Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations. HIGM5 is associated with profound impairment in immunoglobulin (Ig) class-switch recombination (CSR) at a DNA precleavage step.,function: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.,online information:UNG mutation db,PTM:Isoform 1 is processed by cleavage of a transit peptide.,similarity:Belongs to the uracil-DNA glycosylase family.,subunit:Monomer. Interacts with HIV-1 Vpr.,tissue specificity: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.,

somatic diversification of immune receptors, immune effector process, immunoglobulin production, production of molecular mediator of immune response, immune system development, somatic diversification of immune receptors via germline recombination within a single locus, somatic diversification of immune receptors via somatic mutation, DNA metabolic process, DNA repair, base-excision repair, DNA recombination, immune response, response to DNA damage stimulus, somatic cell DNA recombination, somatic diversification of immunoglobulins, somatic hypermutation of immunoglobulin genes, somatic recombination of immunoglobulin gene segments, cellular response to stress,

[Isoform 1]: Mitochondrion.; [Isoform 2]: Nucleus.

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.