View source for 3swy


==CNGA3 626-672 containing CLZ domain==
<StructureSection load='3swy' size='340' side='right'caption='[[3swy]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[3swy]] 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=3SWY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3SWY 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]] 1.9&#8491;</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=3swy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3swy OCA], [https://pdbe.org/3swy PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3swy RCSB], [https://www.ebi.ac.uk/pdbsum/3swy PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3swy ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/CNGA3_HUMAN CNGA3_HUMAN] Achromatopsia;Cone rod dystrophy. The disease is caused by mutations affecting the gene represented in this entry.  Defects in CNGA3 may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
== Function ==
[https://www.uniprot.org/uniprot/CNGA3_HUMAN CNGA3_HUMAN] Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.<ref>PMID:10888875</ref> 

==See Also==
*[[Ion channels 3D structures|Ion channels 3D structures]]
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Black KD]]
[[Category: Camp SS]]
[[Category: Haitin Y]]
[[Category: Shuart NG]]
[[Category: Zagotta WN]]