4bgq: Difference between revisions
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{{STRUCTURE_4bgq| PDB=4bgq | SCENE= }} | |||
===Crystal structure of the human CDKL5 kinase domain=== | |||
The entry | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CDKL5_HUMAN CDKL5_HUMAN]] Note=Chromosomal aberrations involving CDKL5 are found in patients manifesting early-onset seizures and spams and psychomotor impairment. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15). Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:[http://omim.org/entry/300672 300672]]: A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:15917271</ref> <ref>PMID:16935860</ref> <ref>PMID:12736870</ref> <ref>PMID:15492925</ref> <ref>PMID:15499549</ref> <ref>PMID:15689447</ref> <ref>PMID:16015284</ref> <ref>PMID:16611748</ref> <ref>PMID:18790821</ref> <ref>PMID:17993579</ref> <ref>PMID:18809835</ref> <ref>PMID:19253388</ref> <ref>PMID:19241098</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CDKL5_HUMAN CDKL5_HUMAN]] Mediates phosphorylation of MECP2.<ref>PMID:15917271</ref> <ref>PMID:16935860</ref> | |||
==About this Structure== | |||
[[4bgq]] 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=4BGQ OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Cyclin-dependent kinase]] | |||
[[Category: Homo sapiens]] | |||
[[Category: Arrowsmith, C H.]] | |||
[[Category: Bountra, C.]] | |||
[[Category: Bullock, A.]] | |||
[[Category: Canning, P.]] | |||
[[Category: Delft, F von.]] | |||
[[Category: Edwards, A M.]] | |||
[[Category: Goubin, S.]] | |||
[[Category: Krojer, T.]] | |||
[[Category: Mahajan, P.]] | |||
[[Category: Pike, A C.W.]] | |||
[[Category: Vollmar, M.]] | |||
[[Category: Kinase]] | |||
[[Category: Phospho-mimetic]] | |||
[[Category: Transferase]] | |||