UNG Antibody – Rabbit Polyclonal

This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]

UNG: 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. Defects in UNG are a cause of immunodeficiency with hyper-IgM type 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. Belongs to the uracil-DNA glycosylase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.2.2.27; Hydrolase

Chromosomal Location of Human Ortholog: 12q23-q24.1

Cellular Component: nucleoplasm; mitochondrion; nucleus

Molecular Function: protein binding; uracil DNA N-glycosylase activity

Biological Process: base-excision repair, AP site formation; viral reproduction; depyrimidination; base-excision repair; somatic hypermutation of immunoglobulin genes; somatic recombination of immunoglobulin gene segments; DNA repair; negative regulation of apoptosis

Disease: Immunodeficiency With Hyper-igm, Type 5