2qz4

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[[Image:2qz4.png|left|200px]]
 
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{{STRUCTURE_2qz4| PDB=2qz4 | SCENE= }}
{{STRUCTURE_2qz4| PDB=2qz4 | SCENE= }}
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===Human paraplegin, AAA domain in complex with ADP===
===Human paraplegin, AAA domain in complex with ADP===
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{{ABSTRACT_PUBMED_19841671}}
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{{ABSTRACT_PUBMED_19841671}}
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==Disease==
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[[http://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN]] Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:[http://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.
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==Function==
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[[http://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN]] Putative ATP-dependent zinc metalloprotease.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:019841671</ref><references group="xtra"/>
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<ref group="xtra">PMID:019841671</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Arrowsmith, C H.]]
[[Category: Arrowsmith, C H.]]

Revision as of 18:34, 24 March 2013

Template:STRUCTURE 2qz4

Contents

Human paraplegin, AAA domain in complex with ADP

Template:ABSTRACT PUBMED 19841671

Disease

[SPG7_HUMAN] Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM: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.[1][2][3][4] 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

[SPG7_HUMAN] Putative ATP-dependent zinc metalloprotease.

About this Structure

2qz4 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Karlberg T, van den Berg S, Hammarstrom M, Sagemark J, Johansson I, Holmberg-Schiavone L, Schuler H. Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7. PLoS One. 2009 Oct 20;4(10):e6975. PMID:19841671 doi:10.1371/journal.pone.0006975
  1. ↑ Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998 Jun 12;93(6):973-83. PMID:9635427
  2. ↑ Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 2006 Mar 14;66(5):654-9. PMID:16534102 doi:10.1212/01.wnl.0000201185.91110.15
  3. ↑ Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. Neurology. 2007 Jul 24;69(4):368-75. PMID:17646629 doi:69/4/368
  4. ↑ Bonn F, Pantakani K, Shoukier M, Langer T, Mannan AU. Functional evaluation of paraplegin mutations by a yeast complementation assay. Hum Mutat. 2010 May;31(5):617-21. doi: 10.1002/humu.21226. PMID:20186691 doi:10.1002/humu.21226

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