4o6x: Difference between revisions

<table><tr><td colspan='2'>[[4o6x]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4O6X OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4O6X FirstGlance]. <br>

</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4o6x FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o6x OCA], [https://pdbe.org/4o6x PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4o6x RCSB], [https://www.ebi.ac.uk/pdbsum/4o6x PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4o6x ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/ANK3_HUMAN ANK3_HUMAN] Intellectual disability - hypotonia - spasticity - sleep disorder;Schizophrenia. Genetic variations in ANK3 may be associated with autism spectrum disorders susceptibility.  The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136).<ref>PMID:23390136</ref>  

[https://www.uniprot.org/uniprot/ANK3_HUMAN ANK3_HUMAN] In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments.  Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.

[[Category: Homo sapiens]]

[[Category: Liu Y]]

[[Category: Wang JH]]

[[Category: Zhang Y]]