1now: Difference between revisions
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{{STRUCTURE_1now| PDB=1now | SCENE= }} | {{STRUCTURE_1now| PDB=1now | SCENE= }} | ||
===Human lysosomal beta-hexosaminidase isoform B in complex with (2R,3R,4S,5R)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium Chloride (GalNAc-isofagomine)=== | |||
{{ABSTRACT_PUBMED_12662933}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/HEXB_HUMAN HEXB_HUMAN]] Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2) [MIM:[http://omim.org/entry/268800 268800]]; also known as Sandhoff disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G2 is clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.<ref>PMID:1720305</ref><ref>PMID:1531140</ref><ref>PMID:8357844</ref><ref>PMID:7626071</ref><ref>PMID:7557963</ref><ref>PMID:7633435</ref><ref>PMID:8950198</ref><ref>PMID:9401004</ref><ref>PMID:9856491</ref><ref>PMID:9694901</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/HEXB_HUMAN HEXB_HUMAN]] Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012662933</ref><references group="xtra"/> | <ref group="xtra">PMID:012662933</ref><references group="xtra"/><references/> | ||
[[Category: Beta-N-acetylhexosaminidase]] | [[Category: Beta-N-acetylhexosaminidase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
