4do6: Difference between revisions
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{{STRUCTURE_4do6| PDB=4do6 | SCENE= }} | {{STRUCTURE_4do6| PDB=4do6 | SCENE= }} | ||
===Pharmacological chaperones for human alpha-N-acetylgalactosaminidase=== | |||
{{ABSTRACT_PUBMED_23045655}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/NAGAB_HUMAN NAGAB_HUMAN]] Defects in NAGA are the cause of Schindler disease (SCHIND) [MIM:[http://omim.org/entry/609241 609241]]. Schindler disease is a form of NAGA deficiency characterized by early onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive.<ref>PMID:2243144</ref><ref>PMID:8782044</ref> Defects in NAGA are the cause of Kanzaki disease (KANZD) [MIM:[http://omim.org/entry/609242 609242]]; also known as NAGA deficiency type II or Schindler disease type II. Kanzaki disease is an autosomal recessive disorder characterized by late onset, angiokeratoma corporis diffusum and mild intellectual impairment.<ref>PMID:8040340</ref><ref>PMID:11251574</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/NAGAB_HUMAN NAGAB_HUMAN]] Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.<ref>PMID:9741689</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[4do6]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4DO6 OCA]. | [[4do6]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4DO6 OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Alpha-N-acetylgalactosaminidase]] | [[Category: Alpha-N-acetylgalactosaminidase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||