View source for 3pa6


==Structure of the N-terminal BRCT domain of human microcephalin (MCPH1)==
<StructureSection load='3pa6' size='340' side='right'caption='[[3pa6]], [[Resolution|resolution]] 1.50&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[3pa6]] is a 3 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=3PA6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3PA6 FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.5&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></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=3pa6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3pa6 OCA], [https://pdbe.org/3pa6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3pa6 RCSB], [https://www.ebi.ac.uk/pdbsum/3pa6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3pa6 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN] Premature chromosome condensation with microcephaly and intellectual deficit;Autosomal recessive primary microcephaly. Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:[https://omim.org/entry/251200 251200]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:16211557</ref> 
== Function ==
[https://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN] Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:15220350</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Heroux A]]
[[Category: Mer G]]
[[Category: Singh N]]
[[Category: Thompson JR]]