2qz4: Difference between revisions
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{{STRUCTURE_2qz4| PDB=2qz4 | SCENE= }} | {{STRUCTURE_2qz4| PDB=2qz4 | SCENE= }} | ||
===Human paraplegin, AAA domain in complex with ADP=== | |||
{{ABSTRACT_PUBMED_19841671}} | |||
=== | ==Disease== | ||
[[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. | |||
==Function== | |||
[[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== | ||
<ref group="xtra">PMID:019841671</ref><references group="xtra"/> | <ref group="xtra">PMID:019841671</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arrowsmith, C H.]] | [[Category: Arrowsmith, C H.]] | ||
