3tac: Difference between revisions

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[[Image:3tac.png|left|200px]]
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{{STRUCTURE_3tac|  PDB=3tac  |  SCENE=  }}  
{{STRUCTURE_3tac|  PDB=3tac  |  SCENE=  }}  
===Crystal Structure of the Liprin-alpha/CASK complex===
===Crystal Structure of the Liprin-alpha/CASK complex===
{{ABSTRACT_PUBMED_21855798}}


==Disease==
[[http://www.uniprot.org/uniprot/CSKP_HUMAN CSKP_HUMAN]] Defects in CASK are the cause of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:[http://omim.org/entry/300749 300749]]. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Patients with mental retardation X-linked CASK-related can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus.<ref>PMID:19165920</ref>  Defects in CASK are the cause of FG syndrome type 4 (FGS4) [MIM:[http://omim.org/entry/300422 300422]]. FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.<ref>PMID:19200522</ref>


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_21855798}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/CSKP_HUMAN CSKP_HUMAN]] Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TRB1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1.
(as it appears on PubMed at http://www.pubmed.gov), where 21855798 is the PubMed ID number.
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{{ABSTRACT_PUBMED_21855798}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:021855798</ref><references group="xtra"/>
<ref group="xtra">PMID:021855798</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Non-specific serine/threonine protein kinase]]
[[Category: Non-specific serine/threonine protein kinase]]
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