UNG est un gène codé par le symbole UNG. Il est également connu sous le nom de: Uracil-DNA glycosylase; UDG; DGU115. UNG a une masse de 34.65kDa, une longueur d'acide aminé de 313, et est impliqué dans Immunodeficiency with hyper-IgM 5.
Nous proposons 11 des anticorps contre UNG, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
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.
Implication dans la maladie
Immunodeficiency with hyper-IgM 5: 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.
Similitudes de séquence
Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family.
Modification post-traductionnelle
Isoform 1 is processed by cleavage of a transit peptide.
Localisation cellulaire
Mitochondrion.
