8p7g: Difference between revisions
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New page: '''Unreleased structure''' The entry 8p7g is ON HOLD Authors: Description: Category: Unreleased Structures |
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The entry | ==Structural characterization of PHOX2B and its DNA interactions shed lights into the molecular basis of the + 7Ala variant pathogenicity in CCHS== | ||
<StructureSection load='8p7g' size='340' side='right'caption='[[8p7g]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[8p7g]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8P7G OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8P7G FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> | |||
[[Category: | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8p7g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8p7g OCA], [https://pdbe.org/8p7g PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8p7g RCSB], [https://www.ebi.ac.uk/pdbsum/8p7g PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8p7g ProSAT]</span></td></tr> | ||
</table> | |||
== Disease == | |||
[https://www.uniprot.org/uniprot/PHX2B_HUMAN PHX2B_HUMAN] Neuroblastoma;Congenital central hypoventilation syndrome;Hirschsprung disease-ganglioneuroblastoma syndrome;Haddad syndrome. The disease is caused by variants affecting the gene represented in this entry. Disease susceptibility is associated with variants affecting the gene represented in this entry. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/PHX2B_HUMAN PHX2B_HUMAN] Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element. | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Diana D]] | |||
[[Category: Fattorusso R]] | |||
[[Category: Russo L]] | |||
Latest revision as of 05:20, 15 May 2024
Structural characterization of PHOX2B and its DNA interactions shed lights into the molecular basis of the + 7Ala variant pathogenicity in CCHS
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