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1msz
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1msz]] 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=1MSZ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1MSZ FirstGlance]. <br> | <table><tr><td colspan='2'>[[1msz]] 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=1MSZ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1MSZ FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Smubp-2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Smubp-2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=1msz FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1msz OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1msz RCSB], [http://www.ebi.ac.uk/pdbsum/1msz 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=1msz FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1msz OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1msz RCSB], [http://www.ebi.ac.uk/pdbsum/1msz PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/SMBP2_HUMAN SMBP2_HUMAN]] Defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6) [MIM:[http://omim.org/entry/604320 604320]]; also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. The most prominent symptoms of HMN6 are severe respiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominant involvement of the upper limbs and distal muscles.<ref>PMID:19158098</ref> <ref>PMID:11528396</ref> <ref>PMID:14681881</ref> <ref>PMID:15108294</ref> <ref>PMID:15797190</ref> <ref>PMID:17431882</ref> <ref>PMID:18802676</ref> | [[http://www.uniprot.org/uniprot/SMBP2_HUMAN SMBP2_HUMAN]] Defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6) [MIM:[http://omim.org/entry/604320 604320]]; also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. The most prominent symptoms of HMN6 are severe respiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominant involvement of the upper limbs and distal muscles.<ref>PMID:19158098</ref> <ref>PMID:11528396</ref> <ref>PMID:14681881</ref> <ref>PMID:15108294</ref> <ref>PMID:15797190</ref> <ref>PMID:17431882</ref> <ref>PMID:18802676</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Guignard, L | + | [[Category: Guignard, L]] |
| - | [[Category: Leonchiks, A | + | [[Category: Leonchiks, A]] |
| - | [[Category: Liepinsh, E | + | [[Category: Liepinsh, E]] |
| - | [[Category: Otting, G | + | [[Category: Otting, G]] |
| - | [[Category: Sharipo, A | + | [[Category: Sharipo, A]] |
[[Category: Dna binding protein]] | [[Category: Dna binding protein]] | ||
[[Category: R3h fold]] | [[Category: R3h fold]] | ||
Revision as of 15:51, 5 January 2015
Solution structure of the R3H domain from human Smubp-2
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