1rj7: Difference between revisions

<StructureSection load='1rj7' size='340' side='right'caption='[[1rj7]], [[Resolution|resolution]] 2.30&Aring;' scene=''>

<table><tr><td colspan='2'>[[1rj7]] is a 12 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1RJ7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1RJ7 FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.3&#8491;</td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1rj7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1rj7 OCA], [https://pdbe.org/1rj7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1rj7 RCSB], [https://www.ebi.ac.uk/pdbsum/1rj7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1rj7 ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/EDA_HUMAN EDA_HUMAN] Defects in EDA are the cause of ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:[https://omim.org/entry/305100 305100]; also known as Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia (XLHED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. XHED is a disease characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. XHED is the most common form of over 150 clinically distinct ectodermal dysplasias.<ref>PMID:8696334</ref> <ref>PMID:9683615</ref> <ref>PMID:9736768</ref> <ref>PMID:11309369</ref> <ref>PMID:11416205</ref> <ref>PMID:9630076</ref> <ref>PMID:9507389</ref> <ref>PMID:10469321</ref> <ref>PMID:10951256</ref> <ref>PMID:11343303</ref> <ref>PMID:11378824</ref> <ref>PMID:11295832</ref> <ref>PMID:11279189</ref> <ref>PMID:12225002</ref> <ref>PMID:12932274</ref> <ref>PMID:17256800</ref> <ref>PMID:18231121</ref> <ref>PMID:19438931</ref> <ref>PMID:19127222</ref> <ref>PMID:20486090</ref> <ref>PMID:20979233</ref> <ref>PMID:22008666</ref> <ref>PMID:22350046</ref>  Defects in EDA are the cause of tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:[https://omim.org/entry/313500 313500]. A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).<ref>PMID:16583127</ref> <ref>PMID:18657636</ref>  

[https://www.uniprot.org/uniprot/EDA_HUMAN EDA_HUMAN] Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR.

     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/rj/1rj7_consurf.spt"</scriptWhenChecked>

[[Category: Homo sapiens]]

[[Category: Large Structures]]

[[Category: Ackerly H]]

[[Category: Compaan DM]]

[[Category: Dixit VM]]

[[Category: Hymowitz SG]]

[[Category: Starovasnik MA]]

[[Category: Yan M]]

[[Category: De Vos AM]]