1akz: Difference between revisions
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{{STRUCTURE_1akz| PDB=1akz | SCENE= }} | {{STRUCTURE_1akz| PDB=1akz | SCENE= }} | ||
===HUMAN URACIL-DNA GLYCOSYLASE=== | |||
{{ABSTRACT_PUBMED_9724657}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/UNG_HUMAN UNG_HUMAN]] Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 (HIGM5) [MIM:[http://omim.org/entry/608106 608106]]. 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.<ref>PMID:12958596</ref><ref>PMID:15967827</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/UNG_HUMAN UNG_HUMAN]] 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. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009724657</ref><ref group="xtra">PMID:011679752</ref><ref group="xtra">PMID:016411755</ref><references group="xtra"/> | <ref group="xtra">PMID:009724657</ref><ref group="xtra">PMID:011679752</ref><ref group="xtra">PMID:016411755</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Mol, C D.]] | [[Category: Mol, C D.]] | ||