1wjm

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[[Image:1wjm.png|left|200px]]
 
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{{STRUCTURE_1wjm| PDB=1wjm | SCENE= }}
{{STRUCTURE_1wjm| PDB=1wjm | SCENE= }}
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===Solution structure of pleckstrin homology domain of human beta III spectrin.===
===Solution structure of pleckstrin homology domain of human beta III spectrin.===
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==Disease==
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[[http://www.uniprot.org/uniprot/SPTN2_HUMAN SPTN2_HUMAN]] Defects in SPTBN2 are the cause of spinocerebellar ataxia type 5 (SCA5) [MIM:[http://omim.org/entry/600224 600224]]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.<ref>PMID:16429157</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/SPTN2_HUMAN SPTN2_HUMAN]] Probably plays an important role in neuronal membrane skeleton.
==About this Structure==
==About this Structure==
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==See Also==
==See Also==
*[[Spectrin|Spectrin]]
*[[Spectrin|Spectrin]]
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Inoue, M.]]
[[Category: Inoue, M.]]

Revision as of 12:08, 24 March 2013

Template:STRUCTURE 1wjm

Contents

Solution structure of pleckstrin homology domain of human beta III spectrin.

Disease

[SPTN2_HUMAN] Defects in SPTBN2 are the cause of spinocerebellar ataxia type 5 (SCA5) [MIM:600224]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.[1]

Function

[SPTN2_HUMAN] Probably plays an important role in neuronal membrane skeleton.

About this Structure

1wjm is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

See Also

Reference

  1. ↑ Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006 Feb;38(2):184-90. Epub 2006 Jan 22. PMID:16429157 doi:10.1038/ng1728

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OCA

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