2k27: Difference between revisions

<StructureSection load='2k27' size='340' side='right'caption='[[2k27]]' scene=''>

<table><tr><td colspan='2'>[[2k27]] 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=2K27 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2K27 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>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2k27 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k27 OCA], [https://pdbe.org/2k27 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2k27 RCSB], [https://www.ebi.ac.uk/pdbsum/2k27 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2k27 ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/PAX8_HUMAN PAX8_HUMAN] Defects in PAX8 are the cause of congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:[https://omim.org/entry/218700 218700]. CHNG2 is a disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.<ref>PMID:9590296</ref> <ref>PMID:11232006</ref> <ref>PMID:11502839</ref>  

[https://www.uniprot.org/uniprot/PAX8_HUMAN PAX8_HUMAN] Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

[[Category: Boelens R]]

[[Category: Codutti L]]

[[Category: Corazza A]]

[[Category: Esposito G]]

[[Category: Fogolari F]]

[[Category: Quadrifoglio F]]

[[Category: Tell G]]

[[Category: Vascotto C]]

[[Category: Viglino P]]

[[Category: Van Ingen H]]