4mws: Difference between revisions
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{{STRUCTURE_4mws| PDB=4mws | SCENE= }} | |||
===Crystal structure of human PPCA (trigonal crystal form 1)=== | |||
The | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PPGB_HUMAN PPGB_HUMAN]] Defects in CTSA are the cause of galactosialidosis (GSL) [MIM:[http://omim.org/entry/256540 256540]]. A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival.<ref>PMID:1756715</ref> <ref>PMID:8514852</ref> <ref>PMID:8968752</ref> <ref>PMID:10944848</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PPGB_HUMAN PPGB_HUMAN]] Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins.<ref>PMID:1907282</ref> | |||
==About this Structure== | |||
[[4mws]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4MWS OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Carboxypeptidase C]] | |||
[[Category: Garman, S C.]] | |||
[[Category: Kolli, N.]] | |||
[[Category: Carboxypeptidase]] | |||
[[Category: Cathepsin some]] | |||
[[Category: Glycoprotein]] | |||
[[Category: Hydrolase]] | |||
[[Category: Lysosomal enzyme]] | |||
[[Category: N-linked glycosylation]] | |||
[[Category: Protective protein]] | |||
[[Category: Proteolytically activated form]] | |||
[[Category: Serine protease]] |