1ddf: Difference between revisions
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{{STRUCTURE_1ddf| PDB=1ddf | SCENE= }} | {{STRUCTURE_1ddf| PDB=1ddf | SCENE= }} | ||
===FAS DEATH DOMAIN, NMR, MINIMIZED AVERAGE STRUCTURE=== | |||
{{ABSTRACT_PUBMED_8967952}} | |||
===FAS | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TNR6_HUMAN TNR6_HUMAN]] Defects in FAS are the cause of autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:[http://omim.org/entry/601859 601859]]; also known as Canale-Smith syndrome (CSS). ALPS is a childhood syndrome involving hemolytic anemia and thrombocytopenia with massive lymphadenopathy and splenomegaly.<ref>PMID:17336828</ref><ref>PMID:7540117</ref><ref>PMID:8929361</ref><ref>PMID:9028321</ref><ref>PMID:9028957</ref><ref>PMID:9322534</ref><ref>PMID:9821419</ref><ref>PMID:10090885</ref><ref>PMID:10515860</ref><ref>PMID:10340403</ref><ref>PMID:9927496</ref><ref>PMID:11418480</ref><ref>PMID:20935634</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TNR6_HUMAN TNR6_HUMAN]] Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).<ref>PMID:7533181</ref><ref>PMID:19118384</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:008967952</ref><ref group="xtra">PMID:011742118</ref><references group="xtra"/> | <ref group="xtra">PMID:008967952</ref><ref group="xtra">PMID:011742118</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Eberstadt, M.]] | [[Category: Eberstadt, M.]] | ||