2bq8: Difference between revisions
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{{STRUCTURE_2bq8| PDB=2bq8 | SCENE= }} | {{STRUCTURE_2bq8| PDB=2bq8 | SCENE= }} | ||
===CRYSTAL STRUCTURE OF HUMAN PURPLE ACID PHOSPHATASE WITH AN INHIBITORY CONFORMATION OF THE REPRESSION LOOP=== | |||
{{ABSTRACT_PUBMED_15993892}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PPA5_HUMAN PPA5_HUMAN]] Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:[http://omim.org/entry/607944 607944]]. A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. Note=ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease.<ref>PMID:21217755</ref><ref>PMID:21217752</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PPA5_HUMAN PPA5_HUMAN]] Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:015993892</ref><references group="xtra"/> | <ref group="xtra">PMID:015993892</ref><references group="xtra"/><references/> | ||
[[Category: Acid phosphatase]] | [[Category: Acid phosphatase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
