1aut: Difference between revisions
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{{STRUCTURE_1aut| PDB=1aut | SCENE= }} | {{STRUCTURE_1aut| PDB=1aut | SCENE= }} | ||
===Human activated protein C=== | |||
{{ABSTRACT_PUBMED_9003757}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PROC_HUMAN PROC_HUMAN]] Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:[http://omim.org/entry/176860 176860]]. A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency.<ref>PMID:8560401</ref><ref>PMID:2437584</ref><ref>PMID:2602169</ref><ref>PMID:1868249</ref><ref>PMID:1347706</ref><ref>PMID:1511989</ref><ref>PMID:1301959</ref><ref>PMID:8499568</ref><ref>PMID:8292730</ref><ref>PMID:8398832</ref><ref>PMID:7865674</ref><ref>PMID:7792728</ref><ref>PMID:8829639</ref><ref>PMID:9798967</ref> Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:[http://omim.org/entry/612304 612304]]. A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PROC_HUMAN PROC_HUMAN]] Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009003757</ref><references group="xtra"/> | <ref group="xtra">PMID:009003757</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bode, W.]] | [[Category: Bode, W.]] | ||