9rk6: Difference between revisions
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==Paraplegin N-terminal domain== | |||
<StructureSection load='9rk6' size='340' side='right'caption='[[9rk6]], [[Resolution|resolution]] 1.99Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[9rk6]] is a 2 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=9RK6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9RK6 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]] 1.99Å</td></tr> | |||
[[Category: | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></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=9rk6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9rk6 OCA], [https://pdbe.org/9rk6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9rk6 RCSB], [https://www.ebi.ac.uk/pdbsum/9rk6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9rk6 ProSAT]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[https://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN] Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:[https://omim.org/entry/607259 607259]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.<ref>PMID:9635427</ref> <ref>PMID:16534102</ref> <ref>PMID:17646629</ref> <ref>PMID:20186691</ref> Note=Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN] Putative ATP-dependent zinc metalloprotease. | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Paterson N]] | |||
[[Category: Winter A]] | |||
