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| - | {{STRUCTURE_3bfn| PDB=3bfn | SCENE= }}
| + | #REDIRECT [[6nje]] This PDB entry is obsolete and replaced by 6nje |
| - | ===Crystal structure of the motor domain of human kinesin family member 22===
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| - | ==Disease==
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| - | [[http://www.uniprot.org/uniprot/KIF22_HUMAN KIF22_HUMAN]] Defects in KIF22 are the cause of spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:[http://omim.org/entry/603546 603546]]. A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood.<ref>PMID:22152677</ref><ref>PMID:22152678</ref> | + | |
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| - | ==Function==
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| - | [[http://www.uniprot.org/uniprot/KIF22_HUMAN KIF22_HUMAN]] Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA.
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| - | ==About this Structure==
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| - | [[3bfn]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3BFN OCA].
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| - | ==See Also==
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| - | *[[Kinesin|Kinesin]]
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| - | ==Reference==
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| - | <references group="xtra"/><references/>
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| - | [[Category: Homo sapiens]]
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| - | [[Category: Arrowsmith, C H.]]
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| - | [[Category: Bochkarev, A.]]
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| - | [[Category: Dobrovetsky, E.]]
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| - | [[Category: Edwards, A M.]]
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| - | [[Category: MacKenzie, F.]]
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| - | [[Category: Park, H.]]
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| - | [[Category: SGC, Structural Genomics Consortium.]]
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| - | [[Category: Shen, Y.]]
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| - | [[Category: Tempel, W.]]
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| - | [[Category: Weigelt, J.]]
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| - | [[Category: Zhu, H.]]
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| - | [[Category: Adp]]
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| - | [[Category: Atp-binding]]
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| - | [[Category: Dna-binding]]
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| - | [[Category: Kinesin]]
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| - | [[Category: Limited proteolysis]]
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| - | [[Category: Microtubule]]
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| - | [[Category: Motor domain]]
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| - | [[Category: Motor protein]]
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| - | [[Category: Nucleotide-binding]]
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| - | [[Category: Nucleus]]
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| - | [[Category: Phosphoprotein]]
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| - | [[Category: Sgc]]
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| - | [[Category: Structural genomics consortium]]
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