2qz4: Difference between revisions

<table><tr><td colspan='2'>[[2qz4]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2QZ4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2QZ4 FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SPG7 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

[[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.  

[[https://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN]] Putative ATP-dependent zinc metalloprotease.  

[[Category: Human]]

[[Category: Arrowsmith, C H]]

[[Category: Berg, S Van Den]]

[[Category: Berglund, H]]

[[Category: Busam, R D]]

[[Category: Collins, R]]

[[Category: Dahlgren, L G]]

[[Category: Edwards, A]]

[[Category: Flodin, S]]

[[Category: Flores, A]]

[[Category: Graslund, S]]

[[Category: Hammarstrom, M]]

[[Category: Herman, M D]]

[[Category: Holmberg-Schiavone, L]]

[[Category: Johansson, I]]

[[Category: Kallas, A]]

[[Category: Karlberg, T]]

[[Category: Kotenyova, T]]

[[Category: Lehtio, L]]

[[Category: Moche, M]]

[[Category: Nilsson, M E]]

[[Category: Nordlund, P]]

[[Category: Nyman, T]]

[[Category: Persson, J]]

[[Category: Structural genomic]]

[[Category: Sagemark, C]]

[[Category: Sundstrom, M]]

[[Category: Thorsell, A G]]

[[Category: Tresauges, L]]

[[Category: Weigelt, J]]

[[Category: Welin, M]]

[[Category: Aaa+]]

[[Category: Spg7]]