1klc: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1klc]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1KLC OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1KLC FirstGlance]. <br> | <table><tr><td colspan='2'>[[1klc]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1KLC OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1KLC FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1kla|1kla]], [[1kld|1kld]]</td></tr> | </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1kla|1kla]], [[1kld|1kld]]</td></tr> | ||
<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1klc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1klc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1klc RCSB], [http://www.ebi.ac.uk/pdbsum/1klc PDBsum]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1klc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1klc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1klc RCSB], [http://www.ebi.ac.uk/pdbsum/1klc PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/TGFB1_HUMAN TGFB1_HUMAN]] Defects in TGFB1 are the cause of Camurati-Engelmann disease (CE) [MIM:[http://omim.org/entry/131300 131300]]; also known as progressive diaphyseal dysplasia 1 (DPD1). CE is an autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.<ref>PMID:10973241</ref> <ref>PMID:11062463</ref> <ref>PMID:12493741</ref> <ref>PMID:12843182</ref> <ref>PMID:15103729</ref> | [[http://www.uniprot.org/uniprot/TGFB1_HUMAN TGFB1_HUMAN]] Defects in TGFB1 are the cause of Camurati-Engelmann disease (CE) [MIM:[http://omim.org/entry/131300 131300]]; also known as progressive diaphyseal dysplasia 1 (DPD1). CE is an autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.<ref>PMID:10973241</ref> <ref>PMID:11062463</ref> <ref>PMID:12493741</ref> <ref>PMID:12843182</ref> <ref>PMID:15103729</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Archer, S J | [[Category: Archer, S J]] | ||
[[Category: Hinck, A P | [[Category: Hinck, A P]] | ||
[[Category: Lucas, R | [[Category: Lucas, R]] | ||
[[Category: Qian, S W | [[Category: Qian, S W]] | ||
[[Category: Roberts, A B | [[Category: Roberts, A B]] | ||
[[Category: Sporn, M B | [[Category: Sporn, M B]] | ||
[[Category: Torchia, D A | [[Category: Torchia, D A]] | ||
[[Category: Tsang, M L.S | [[Category: Tsang, M L.S]] | ||
[[Category: Weatherbee, J A | [[Category: Weatherbee, J A]] | ||
[[Category: Wenker, J | [[Category: Wenker, J]] | ||
[[Category: Zhang, B L | [[Category: Zhang, B L]] | ||
[[Category: Glycoprotein]] | [[Category: Glycoprotein]] | ||
[[Category: Growth factor]] | [[Category: Growth factor]] | ||
[[Category: Mitogen]] | [[Category: Mitogen]] | ||