2lvc: Difference between revisions
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==Solution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K== | |||
<StructureSection load='2lvc' size='340' side='right' caption='[[2lvc]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | |||
== Structural highlights == | |||
==Disease== | <table><tr><td colspan='2'>[[2lvc]] is a 1 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=2LVC OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2LVC FirstGlance]. <br> | ||
[[http://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN]] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:[http://omim.org/entry/612921 612921]]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.<ref>PMID:19481195</ref> | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA0657, OBSL1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=2lvc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2lvc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2lvc RCSB], [http://www.ebi.ac.uk/pdbsum/2lvc PDBsum]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[[http://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN]] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:[http://omim.org/entry/612921 612921]]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.<ref>PMID:19481195</ref> | |||
== | == References == | ||
<references | <references/> | ||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Acton, T B | [[Category: Acton, T B]] | ||
[[Category: Eletsky, A | [[Category: Eletsky, A]] | ||
[[Category: Everett, J K | [[Category: Everett, J K]] | ||
[[Category: Janjua, H | [[Category: Janjua, H]] | ||
[[Category: Kohan, E | [[Category: Kohan, E]] | ||
[[Category: Lee, D | [[Category: Lee, D]] | ||
[[Category: Montelione, G T | [[Category: Montelione, G T]] | ||
[[Category: | [[Category: Structural genomic]] | ||
[[Category: Pederson, K | [[Category: Pederson, K]] | ||
[[Category: Prestegard, J | [[Category: Prestegard, J]] | ||
[[Category: Pulavarti, S | [[Category: Pulavarti, S]] | ||
[[Category: Sukumaran, D K | [[Category: Sukumaran, D K]] | ||
[[Category: Szyperski, T | [[Category: Szyperski, T]] | ||
[[Category: Xiao, R | [[Category: Xiao, R]] | ||
[[Category: Protein structure initiative]] | [[Category: PSI, Protein structure initiative]] | ||
[[Category: Psi-biology]] | [[Category: Psi-biology]] | ||
[[Category: Structural protein]] | [[Category: Structural protein]] | ||
