2k8p: Difference between revisions

<StructureSection load='2k8p' size='340' side='right'caption='[[2k8p]]' scene=''>

<table><tr><td colspan='2'>[[2k8p]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2K8P OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2K8P FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR, 36 models</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=2k8p FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k8p OCA], [https://pdbe.org/2k8p PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2k8p RCSB], [https://www.ebi.ac.uk/pdbsum/2k8p PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2k8p ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/SOST_HUMAN SOST_HUMAN] Defects in SOST are the cause of sclerosteosis type 1 (SOST1) [MIM:[https://omim.org/entry/269500 269500]. An autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.<ref>PMID:11181578</ref> <ref>PMID:11179006</ref> <ref>PMID:20583295</ref>  Defects in SOST are a cause of van Buchem disease (VBCH) [MIM:[https://omim.org/entry/239100 239100]. An autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated. Note=A 52 kb deletion downstream of SOST results in SOST transcription suppression causing van Buchem disease.<ref>PMID:11836356</ref>  Defects in SOST are a cause of craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:[https://omim.org/entry/122860 122860]. A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients. Note=Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia.<ref>PMID:21221996</ref>  

[https://www.uniprot.org/uniprot/SOST_HUMAN SOST_HUMAN] Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.<ref>PMID:15908424</ref>  

     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/k8/2k8p_consurf.spt"</scriptWhenChecked>

     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>

</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2k8p ConSurf].

[[Category: Homo sapiens]]

[[Category: Large Structures]]

[[Category: Carr MD]]

[[Category: Gong J]]

[[Category: Greenslade K]]

[[Category: Henry AJ]]

[[Category: Moore A]]

[[Category: Mulloy B]]

[[Category: Muskett FW]]

[[Category: Muzylak M]]

[[Category: Paszty C]]

[[Category: Qian X]]

[[Category: Robinson MK]]

[[Category: Slocombe PM]]

[[Category: Taylor RJ]]

[[Category: Ventom A]]

[[Category: Veverka V]]

[[Category: Zhang L]]