View source for 9rk6


==Paraplegin N-terminal domain==
<StructureSection load='9rk6' size='340' side='right'caption='[[9rk6]], [[Resolution|resolution]] 1.99&Aring;' 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]] 1.99&#8491;</td></tr>
<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]]