2e7m: Difference between revisions
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{{STRUCTURE_2e7m| PDB=2e7m | SCENE= }} | {{STRUCTURE_2e7m| PDB=2e7m | SCENE= }} | ||
===Solution structure of the PKD domain (329-428) from human KIAA0319=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/K0319_HUMAN K0319_HUMAN]] Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:[http://omim.org/entry/600202 600202]]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability. Note=A lower expression is associated with the risk haplotype.<ref>PMID:16600991</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/K0319_HUMAN K0319_HUMAN]] Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.<ref>PMID:19679544</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[2e7m]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2E7M OCA]. | [[2e7m]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2E7M OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
