1apy: Difference between revisions
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{{STRUCTURE_1apy| PDB=1apy | SCENE= }} | {{STRUCTURE_1apy| PDB=1apy | SCENE= }} | ||
===HUMAN ASPARTYLGLUCOSAMINIDASE=== | |||
{{ABSTRACT_PUBMED_8846222}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ASPG_HUMAN ASPG_HUMAN]] Defects in AGA are the cause of aspartylglucosaminuria (AGU) [MIM:[http://omim.org/entry/208400 208400]]. AGU is an inborn lysosomal storage disease. Clinical features of AGU include mild to severe mental retardation manifesting from the age of 2, coarse facial features and mild connective tissue abnormalities. This recessively inherited disease is overrepresented in the Finnish population.<ref>PMID:1703489</ref><ref>PMID:1904874</ref><ref>PMID:2011603</ref><ref>PMID:8776587</ref><ref>PMID:9137882</ref><ref>PMID:11309371</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ASPG_HUMAN ASPG_HUMAN]] Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:008846222</ref><references group="xtra"/> | <ref group="xtra">PMID:008846222</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Oinonen, C.]] | [[Category: Oinonen, C.]] | ||
