3fb2: Difference between revisions
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{{STRUCTURE_3fb2| PDB=3fb2 | SCENE= }} | {{STRUCTURE_3fb2| PDB=3fb2 | SCENE= }} | ||
===Crystal structure of the human brain alpha spectrin repeats 15 and 16. Northeast Structural Genomics Consortium target HR5563a.=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5) [MIM:[http://omim.org/entry/613477 613477]]. EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.<ref>PMID:20493457</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Spectrin|Spectrin]] | *[[Spectrin|Spectrin]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Acton, T B.]] | [[Category: Acton, T B.]] | ||
